ClinVar Genomic variation as it relates to human health
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
Variation ID: 99583 Accession: VCV000099583.33
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q14.3 11: 89191214 (GRCh38) [ NCBI UCSC ] 11: 88924382 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Feb 20, 2014 Apr 20, 2024 Mar 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000372.5:c.832C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000363.1:p.Arg278Ter nonsense NC_000011.10:g.89191214C>T NC_000011.9:g.88924382C>T NG_008748.1:g.18343C>T - Protein change
- R278*
- Other names
- -
- Canonical SPDI
- NC_000011.10:89191213:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00007
Exome Aggregation Consortium (ExAC) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00019
1000 Genomes Project 30x 0.00031
The Genome Aggregation Database (gnomAD) 0.00004
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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TYR | - | - |
GRCh38 GRCh37 |
656 | 677 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Jan 28, 2024 | RCV000085974.19 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Feb 2, 2022 | RCV000502958.12 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Mar 31, 2024 | RCV000778349.6 | |
Likely pathogenic (1) |
no assertion criteria provided
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Mar 7, 2017 | RCV000755071.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000762869.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 27, 2023 | RCV003407479.4 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 30, 2023 | RCV003460786.1 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2023 | RCV003488383.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Jan 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Tyrosinase-negative oculocutaneous albinism
Affected status: yes
Allele origin:
germline
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3billion
Accession: SCV002059068.1
First in ClinVar: Jan 15, 2022 Last updated: Jan 15, 2022 |
Comment:
Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are … (more)
Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS).The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000099583, PMID:7902671, 3billion dataset). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000170, PM2_M). Each parent is heterozygous for the variant (PM3_P, 3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Depigmentation/hyperpigmentation of skin (present) , White eyebrow (present) , White eyelashes (present)
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Pathogenic
(Nov 09, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV002015810.3
First in ClinVar: Nov 20, 2021 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26252096, 16056219, 24721949, 32849781, 23324268, 22734612, 26165494, 15635296, 7902671, 27829221, 16767664, 28771251, 28266639, 16704458, 30487145, 30996339, 31199599, 31077556, 26689913, 10929771, 19865097, 33800529) (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Tyrosinase-negative oculocutaneous albinism
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004048550.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The stop gained variant c.832C>T (p.Arg278Ter) in TYR has been reported in many families and individuals affected with oculocutaneous albinism (Wang et al., 2016; Wei … (more)
The stop gained variant c.832C>T (p.Arg278Ter) in TYR has been reported in many families and individuals affected with oculocutaneous albinism (Wang et al., 2016; Wei et al., 2015). The p.Arg278Ter variant is reported with the allele frequency (0.01%) in the gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. The nucleotide change in TYR is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss-of-function variants in TYR are known to be pathogenic (Simeonov et al., 2013). For these reasons, this variant has been classified as Pathogenic. (less)
Clinical Features:
Albinism (present) , Family history (present)
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Pathogenic
(Oct 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004207537.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Jul 25, 2016)
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criteria provided, single submitter
Method: clinical testing
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Albinism, oculocutaneous, type IA
Affected status: yes
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV000597789.1
First in ClinVar: Aug 28, 2017 Last updated: Aug 28, 2017 |
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Pathogenic
(Aug 10, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000854931.1
First in ClinVar: Feb 20, 2014 Last updated: Feb 20, 2014 |
Number of individuals with the variant: 1
Sex: mixed
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Pathogenic
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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None
Tyrosinase-negative oculocutaneous albinism SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN Oculocutaneous albinism type 1B
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893249.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Nov 01, 2018)
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criteria provided, single submitter
Method: clinical testing
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Oculocutaneous albinism
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000914549.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The TYR c.832C>T (p.Arg278Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Arg278Ter variant is … (more)
The TYR c.832C>T (p.Arg278Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. The p.Arg278Ter variant is a well-documented variant that has been reported in individuals with oculocutaneous albinism (OA) in multiple ethnic groups. Across a selection of the available literature, the p.Arg278Ter variant has been identified in 28 probands in a homozygous state, six probands in a compound heterozygous state, and three probands in a heterozygous state (Tripathi et al. 1993; Gershoni-Baruch et al. 1994; Goto et al. 2004; Sundaresan et al. 2004; Chaki et al. 2005; Renugadevi et al. 2010; Park et al. 2012; Wei et al. 2013; Wang et al. 2015). The p.Arg278Ter variant was absent from 137 control individuals and is reported at a frequency of 0.00115 in the South Asian population of the Exome Aggregation Consortium. Haplotype analysis suggested that p.Arg278Ter may be a founder variant (Chaki et al. 2005; Jaworek et al. 2012). Based on the collective evidence and the potential impact of stop-gained variants, the p.Arg278Ter variant is classified as pathogenic for oculocutaneous albinism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Jul 22, 2021)
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criteria provided, single submitter
Method: clinical testing
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Tyrosinase-negative oculocutaneous albinism
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV001821947.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Sex: mixed
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Pathogenic
(Feb 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Tyrosinase-negative oculocutaneous albinism
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002768372.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with oculocutaneous albinism, type IA (MIM#203100) and type IB (MIM#606952). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (48 heterozygotes, 0 homozygotes). (SP) 0701 - Other NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. There are more than 10 NMD-predicted variants that have been reported as likely pathogenic or pathogenic (ClinVar). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been identified in multiple individuals diagnosed with oculocutaneous albinism (ClinVar; PMIDs: 7902671; 11829136; 22734612; 31199599). (SP) 1206 - This variant has been shown to be paternally inherited (by segregation analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Apr 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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TYR-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004114476.1
First in ClinVar: Nov 20, 2023 Last updated: Nov 20, 2023 |
Comment:
The TYR c.832C>T variant is predicted to result in premature protein termination (p.Arg278*). This variant has been reported many times as causative for autosomal recessive … (more)
The TYR c.832C>T variant is predicted to result in premature protein termination (p.Arg278*). This variant has been reported many times as causative for autosomal recessive oculocutaneous albinism (see for examples Tripathi et al. 1993. PubMed ID: 7902671; Wang et al. 2015. PubMed ID: 2591901). This variant is reported in 0.13% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-88924382-C-T), indicating it is relatively common in this population for a pathogenic variant. This is supported by a report that found this c.832C>T variant accounts for ~12% of causative TYR variants in a Chinese cohort of oculocutaneous albinism (Wei et al. 2010. PubMed ID: 19865097). Nonsense variants in TYR are expected to be pathogenic, and this variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/99583). Given the evidence, we interpret c.832C>T (p.Arg278*) as pathogenic. (less)
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Pathogenic
(Oct 31, 2023)
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criteria provided, single submitter
Method: research
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Tyrosinase-negative oculocutaneous albinism
Oculocutaneous albinism type 1B
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: yes
Allele origin:
unknown
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: UCC-HudsonAlpha
Accession: SCV004232708.1 First in ClinVar: Feb 04, 2024 Last updated: Feb 04, 2024 |
Number of individuals with the variant: 1
Clinical Features:
Intellectual disability (present) , Expressive language delay (present) , Receptive language delay (present) , Ocular albinism (present) , Autism (present) , Dystonic disorder (present) , … (more)
Intellectual disability (present) , Expressive language delay (present) , Receptive language delay (present) , Ocular albinism (present) , Autism (present) , Dystonic disorder (present) , Tics (present) , Macular hypoplasia (present) (less)
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Pathogenic
(Nov 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002022491.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 28, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001380185.4
First in ClinVar: Jul 16, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg278*) in the TYR gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg278*) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs62645904, gnomAD 0.1%). This premature translational stop signal has been observed in individuals with oculocutaneous albinism (PMID: 23324268, 26165494, 27829221, 28266639). ClinVar contains an entry for this variant (Variation ID: 99583). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Oculocutaneous albinism
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004847486.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Arg278X variant in TYR has been reported in the compound heterozygous or homozygous state in >10 individuals with oculocutaneous albinism (OCA). It was identified … (more)
The p.Arg278X variant in TYR has been reported in the compound heterozygous or homozygous state in >10 individuals with oculocutaneous albinism (OCA). It was identified with other disease-causing variants in OCA, where the variants were confirmed in trans in at least 2 individuals (Wang 2016 PMID: 27829221, Shahzad 2017 PMID: 28266639, Arshad 2018, Lionel 2018 PMID: 28771251, Zhong 2019 PMID: 31077556, Shakil 2019 PMID: 30996339, Lin 2019 PMID: 31199599, Bibi 2020 PMID: 32849781). This variant segregated with OCA in > 4 affected relatives from 4 families (Wang 2016 PMID: 27829221, Arshad 2018, Shakil 2019 PMID: 30996339, Bibi 2020 PMID: 32849781). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID 99583) and has been identified in 0.12% (106/91064) of South Asian chromosomes, including 1 homozygote, by gnomAD (http://gnomad.broadinstitute.org, v4.0.0), consistent with a recessive carrier frequency. This nonsense variant leads to a premature termination codon at position 278, which is predicted to lead to a truncated or absent protein. Biallelic loss of function of the TYR gene is an established disease mechanism in autosomal recessive oculocutaneous albinism. In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive OCA. ACMG/AMP Criteria applied: PVS1, PM3_VeryStrong, PP1_Strong. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920717.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(Jun 19, 2018)
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no assertion criteria provided
Method: clinical testing
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Tyrosinase-negative oculocutaneous albinism
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV000778806.1
First in ClinVar: Jul 02, 2018 Last updated: Jul 02, 2018 |
Comment:
The observed variant c.832C>T (p.Arg278Ter) is not reported in 1000 Genomes and its minor allele frequency in ExAC databases is 0.0002. The variant is found … (more)
The observed variant c.832C>T (p.Arg278Ter) is not reported in 1000 Genomes and its minor allele frequency in ExAC databases is 0.0002. The variant is found to be disease-causing by MutationTaster2. The reference codon is conserved across species. The observed variant has previously been reported in patients affected with oculocutaneous albinism (Wang et al., 2015) (less)
Clinical Features:
Albinism (present) , Abnormality of skin pigmentation (present) , Abnormality of hair pigmentation (present)
Age: 0-9 years
Sex: female
Ethnicity/Population group: Hindu/Gujarati
Geographic origin: India
Method: DNA isolated from blood was used to perform targeted gene capture using a custom capture kit. The libraries were sequenced to mean >80-100X coverage on Illumina Sequencing platform. The sequence obtained was aligned to the human reference genome (GRCh37/hg19) using BWA program and analyzed using Picard and GATK-Lite toolkit to identify variants in the targeted gene relevant to clinical indication
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Likely pathogenic
(Mar 07, 2017)
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no assertion criteria provided
Method: research
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Nonsyndromic Oculocutaneous Albinism
Affected status: yes
Allele origin:
unknown
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University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV000882889.1
First in ClinVar: Feb 17, 2019 Last updated: Feb 17, 2019 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953227.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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not provided
Affected status: not provided
Allele origin:
not provided
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Retina International
Accession: SCV000118117.1
First in ClinVar: Feb 20, 2014 Last updated: Feb 20, 2014
Comment:
http://phencode.bx.psu.edu/cgi-bin/phencode/phencode?build=hg19&id=RISN_TYR:c.832C>T
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism. | Bibi N | Frontiers in genetics | 2020 | PMID: 32849781 |
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism. | Lin Y | Molecular genetics & genomic medicine | 2019 | PMID: 31199599 |
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. | Zhong Z | Pigment cell & melanoma research | 2019 | PMID: 31077556 |
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. | Shakil M | Eye (London, England) | 2019 | PMID: 30996339 |
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. | Lionel AC | Genetics in medicine : official journal of the American College of Medical Genetics | 2018 | PMID: 28771251 |
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. | Shahzad M | Scientific reports | 2017 | PMID: 28266639 |
Mutation analysis of a Chinese family with oculocutaneous albinism. | Wang X | Oncotarget | 2016 | PMID: 27829221 |
Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. | Wei AH | Journal of genetics and genomics = Yi chuan xue bao | 2015 | PMID: 26165494 |
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. | Wang Y | PloS one | 2015 | PMID: 25919014 |
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. | Simeonov DR | Human mutation | 2013 | PMID: 23504663 |
Genetic analyses of Chinese patients with digenic oculocutaneous albinism. | Wei AH | Chinese medical journal | 2013 | PMID: 23324268 |
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. | Jaworek TJ | Orphanet journal of rare diseases | 2012 | PMID: 22734612 |
Molecular analysis of Korean patients with oculocutaneous albinism. | Park SH | Japanese journal of ophthalmology | 2012 | PMID: 22042571 |
Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. | Renugadevi K | Molecular vision | 2010 | PMID: 20806075 |
Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. | Chaki M | Molecular vision | 2005 | PMID: 16056219 |
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. | Sundaresan P | Molecular vision | 2004 | PMID: 15635296 |
Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. | Goto M | Journal of dermatological science | 2004 | PMID: 15381243 |
Polymorphic sequences of the tyrosinase gene: allele analysis on 16 OCA1 patients in Japan indicate that three polymorphic sequences in the tyrosinase gene promoter could be powerful markers for indirect gene diagnosis. | Tanita M | Journal of human genetics | 2002 | PMID: 11829136 |
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. | Gershoni-Baruch R | American journal of human genetics | 1994 | PMID: 8128955 |
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). | Tripathi RK | American journal of human genetics | 1993 | PMID: 7902671 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TYR | - | - | - | - |
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Text-mined citations for rs62645904 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.