ClinVar Genomic variation as it relates to human health
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
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.
Likely pathogenic(5); Uncertain significance(9)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
Variation ID: 181678 Accession: VCV000181678.29
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 15q22.2 15: 63042891 (GRCh38) [ NCBI UCSC ] 15: 63335090 (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 Nov 5, 2015 Apr 20, 2024 Mar 22, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001018005.2:c.62G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001018005.1:p.Arg21Leu missense NM_000366.6:c.62G>T NP_000357.3:p.Arg21Leu missense NM_001018004.2:c.62G>T NP_001018004.1:p.Arg21Leu missense NM_001018006.2:c.62G>T NP_001018006.1:p.Arg21Leu missense NM_001018007.2:c.62G>T NP_001018007.1:p.Arg21Leu missense NM_001018020.2:c.62G>T NP_001018020.1:p.Arg21Leu missense NM_001301244.2:c.62G>T NP_001288173.1:p.Arg21Leu missense NM_001365776.1:c.62G>T NP_001352705.1:p.Arg21Leu missense NM_001365777.1:c.62G>T NP_001352706.1:p.Arg21Leu missense NM_001365778.1:c.62G>T NP_001352707.1:p.Arg21Leu missense NM_001365779.1:c.62G>T NP_001352708.1:p.Arg21Leu missense NM_001407322.1:c.62G>T NP_001394251.1:p.Arg21Leu missense NM_001407323.1:c.62G>T NP_001394252.1:p.Arg21Leu missense NM_001407324.1:c.62G>T NP_001394253.1:p.Arg21Leu missense NM_001407325.1:c.62G>T NP_001394254.1:p.Arg21Leu missense NM_001407326.1:c.62G>T NP_001394255.1:p.Arg21Leu missense NM_001407327.1:c.62G>T NP_001394256.1:p.Arg21Leu missense NM_001407328.1:c.62G>T NP_001394257.1:p.Arg21Leu missense NM_001407329.1:c.62G>T NP_001394258.1:p.Arg21Leu missense NM_001407330.1:c.62G>T NP_001394259.1:p.Arg21Leu missense NM_001407331.1:c.62G>T NP_001394260.1:p.Arg21Leu missense NM_001407332.1:c.62G>T NP_001394261.1:p.Arg21Leu missense NM_001407333.1:c.62G>T NP_001394262.1:p.Arg21Leu missense NM_001407334.1:c.62G>T NP_001394263.1:p.Arg21Leu missense NM_001407335.1:c.62G>T NP_001394264.1:p.Arg21Leu missense NM_001407336.1:c.62G>T NP_001394265.1:p.Arg21Leu missense NM_001407337.1:c.62G>T NP_001394266.1:p.Arg21Leu missense NM_001407338.1:c.62G>T NP_001394267.1:p.Arg21Leu missense NR_176337.1:n.145G>T non-coding transcript variant NR_176338.1:n.145G>T non-coding transcript variant NR_176339.1:n.145G>T non-coding transcript variant NR_176340.1:n.145G>T non-coding transcript variant NR_176341.1:n.145G>T non-coding transcript variant NR_176342.1:n.145G>T non-coding transcript variant NR_176343.1:n.145G>T non-coding transcript variant NR_176344.1:n.145G>T non-coding transcript variant NR_176345.1:n.145G>T non-coding transcript variant NR_176346.1:n.145G>T non-coding transcript variant NR_176347.1:n.145G>T non-coding transcript variant NC_000015.10:g.63042891G>T NC_000015.9:g.63335090G>T NG_007557.1:g.5253G>T LRG_387:g.5253G>T LRG_387t1:c.62G>T LRG_387p1:p.Arg21Leu - Protein change
- R21L
- Other names
- p.R21L:CGA>CTA
- Canonical SPDI
- NC_000015.10:63042890:G: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.
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00002
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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TPM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
835 | 884 |
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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Uncertain significance (3) |
criteria provided, multiple submitters, no conflicts
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Jul 6, 2023 | RCV000168980.18 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Sep 2, 2022 | RCV000201492.11 | |
Uncertain significance (1) |
criteria provided, single submitter
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Sep 20, 2021 | RCV000244434.10 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
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Mar 22, 2024 | RCV000524610.20 | |
Uncertain significance (1) |
criteria provided, single submitter
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May 4, 2022 | RCV002247554.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Dec 6, 2021 | RCV002252010.9 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Sep 13, 2023 | RCV003149965.11 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jun 22, 2023 | RCV003448274.1 |
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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Likely pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 3
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: Sarcomeric Human Cardiomyopathy Registry (ShaRe)
Accession: SCV000256207.1 First in ClinVar: Nov 05, 2015 Last updated: Nov 05, 2015 |
Number of individuals with the variant: 1
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Uncertain significance
(Sep 01, 2018)
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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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Blueprint Genetics
Accession: SCV000927905.1
First in ClinVar: Jul 25, 2019 Last updated: Jul 25, 2019 |
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Uncertain significance
(Nov 22, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: yes
Allele origin:
germline
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Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
Accession: SCV000995152.1
First in ClinVar: Oct 11, 2019 Last updated: Oct 11, 2019 |
Number of individuals with the variant: 1
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Uncertain significance
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002516110.1
First in ClinVar: May 28, 2022 Last updated: May 28, 2022 |
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Uncertain significance
(Dec 06, 2021)
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criteria provided, single submitter
Method: clinical testing
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See cases
Affected status: yes
Allele origin:
germline
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Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002522942.1
First in ClinVar: Jun 11, 2022 Last updated: Jun 11, 2022 |
Comment:
ACMG classification criteria: PM2, PP3
Clinical Features:
Ptosis (present) , Myositis disease (present) , Muscle weakness (present) , Elevated circulating creatine kinase concentration (present)
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Uncertain significance
(Sep 20, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000318597.6
First in ClinVar: Oct 02, 2016 Last updated: Nov 29, 2022 |
Comment:
The p.R21L variant (also known as c.62G>T), located in coding exon 1 of the TPM1 gene, results from a G to T substitution at nucleotide … (more)
The p.R21L variant (also known as c.62G>T), located in coding exon 1 of the TPM1 gene, results from a G to T substitution at nucleotide position 62. The arginine at codon 21 is replaced by leucine, an amino acid with dissimilar properties. This alteration has been reported in individuals from hypertrophic cardiomyopathy (HCM) and sudden death cohots; however, in some cases clinical detail was limited or co-occurring variants were detected (Alejandra Restrepo-Cordoba M et al. J Cardiovasc Transl Res, 2017 Feb;10:35-46; Mademont-Soler I et al. PLoS One. 2017 Aug;12(8):e0181465; Mendes de Almeida R et al. PLoS ONE, 2017 Aug;12:e0182946; Iglesias M et al. J Clin Med. 2021 Apr;10(9)). In one study, this variant was detected in several HCM cases from Spain and Portugal, was reported to segregate with disease, and was considered associated with late-onset, incomplete penetrance, and milder clinical course; however, details were not available and several cases had co-occurring variants (Lamounier Junior A. Rev Esp Cardiol (Engl Ed). 2021 Feb. doi: 10.1016/j.rec.2021.01.001 [Online ahead of print]). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
Number of individuals with the variant: 1
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Uncertain significance
(Sep 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 3
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002769493.1
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 VUS-3B. Following criteria are met: 0105 - The mechanism of disease for this gene … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3B. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established, although it has been suggested that that HCM is caused by gain of function missense variants while DCM is caused by loss of function missense variants (PMID: 31270709). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0112 - The condition associated with this gene has incomplete penetrance. Variants in this gene have been associated with late-onset disease or incomplete penetrance (PMIDs: 33642254; 32882290, 32731933). (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to leucine. (I) 0251 - This variant is heterozygous. (I) 0302 - Variant is present in gnomAD (v2) <0.001 for a dominant condition (5 heterozygotes, 0 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0703 - Other missense variants comparable to the one identified in this case have moderate previous evidence for pathogenicity. The p.(Arg21His) variant has been reported in one HCM individual, while the p.(Arg21Cys) variant has been reported in two unrelated HCM individuals, although there is limited information provided (PMIDs: 16005017, 21239446). (SP) 0808 - Previous reports of pathogenicity for this variant are conflicting. This variant has been classified multiple times as VUS and has been identified in multiple individuals with HCM and other cardiac-related phenotypes, a number of whom also harboured a likely pathogenic or pathogenic variant in MYBPC3 or VUS in other cardiac genes (personal communication from ClinVar submitters; PMIDs: 28771489, 33919104, 33642254, 33495597). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Uncertain significance
(Jul 06, 2023)
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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: SCV000209344.15
First in ClinVar: Feb 24, 2015 Last updated: Jul 16, 2023 |
Comment:
Identified in an individual who suffered sudden death at rest and harbored additional cardiogenetic variants (Iglesias et al., 2021); Not observed at significant frequency in … (more)
Identified in an individual who suffered sudden death at rest and harbored additional cardiogenetic variants (Iglesias et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29105867, 28138913, 28797094, 28771489, 34426522, 33642254, 31983221, 33919104, 30681346) (less)
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Uncertain significance
(Jul 22, 2022)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV003838402.2
First in ClinVar: Mar 11, 2023 Last updated: Feb 04, 2024 |
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Likely pathogenic
(Sep 13, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004360031.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces arginine with leucine at codon 21 in the actin binding region of the TPM1 protein. Computational prediction suggests that this variant … (more)
This missense variant replaces arginine with leucine at codon 21 in the actin binding region of the TPM1 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been observed in over 30 families affected with hypertrophic cardiomyopathy (PMID: 33642254). Overall, 39 heterozygous affected individuals (age range 11-73 years) and 5 homozygous individuals (age range 40-71 years) were observed in this study with highly variable age of onset, as well as 22 heterozygous unaffected individual (age range 9-80 years). This variant has been shown to segregate with disease in 8 families (11 informative segregations) (PMID: 33642254). This variant has also been reported in 4 other unrelated heterozygous individuals affected with hypertrophic cardiomyopathy (PMID: 28138913, 28771489, 28797094, 33642254, 37498360), one of whom carried a pathogenic variant in the MYBPC3 gene (PMID: 28771489). This variant has also been reported in an individual affected with sudden death (PMID: 33642254). This variant has been identified in 5/246812 chromosomes (5/34311of Latino) in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
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Likely pathogenic
(Nov 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000623810.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 21 of the TPM1 protein (p.Arg21Leu). … (more)
This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 21 of the TPM1 protein (p.Arg21Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individuals with hypertrophic cardiomyopathy (PMID: 28138913, 33642254; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 181678). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. (less)
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Likely Pathogenic
(Mar 22, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004848313.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
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Uncertain significance
(Dec 03, 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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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502459.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 2
Secondary finding: no
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Likely pathogenic
(Jun 22, 2023)
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criteria provided, single submitter
Method: clinical testing
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Dilated cardiomyopathy 1Y
Hypertrophic cardiomyopathy 3
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: unknown
Allele origin:
germline
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New York Genome Center
Accession: SCV004176058.1
First in ClinVar: Dec 17, 2023 Last updated: Dec 17, 2023 |
Comment:
The c.62G>T variant in TPM1 has previously been reported in multiple individuals with hypertrophic cardiomyopathy (HCM) and sudden death in homozygous, heterozygous, and also found … (more)
The c.62G>T variant in TPM1 has previously been reported in multiple individuals with hypertrophic cardiomyopathy (HCM) and sudden death in homozygous, heterozygous, and also found to co-occur with additional gene variants [PMID: 28138913, 28797094, 33919104, 33642254]. Additionally, this variant was reported to be absent in controls, was found to segregate with disease, and associated with late-onset, incomplete penetrance, and milder clinical course [PMID: 33642254]. This variant has been deposited in ClinVar [ClinVar ID: 181678] as Variant of Uncertain Significance/Likely Pathogenic. The c.62G>T variant is observed in 22 alleles (~0.004% minor allele frequency with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8, All of Us), suggesting it is not a common benign variant in the populations represented in those databases. The c.62G>T variant in TPM1 is located in exon 1 of this 10-exon gene and predicted to replace an evolutionarily conserved arginine amino acid with leucine at position 21 in the N-terminal region of the encoded protein which is reported to be crucial for binding of TPM1 with actin protein [PMID:26873245, 11964245, 30240712, 33642254]. In silico predictions are in favor of damaging effect for p.(Arg21Leu) [(CADD v1.6 = 24.3, REVEL = 0.773)]; however, there are no functional studies to support or refute these predictions. Another missense substitution affecting the same protein residue p.(Arg21His) has previously been identified in an individual with hypertrophic cardiomyopathy and shown to be functionally damaging [PMID: 21239446, 29105867]. Based on available evidence this c.62G>T p.(Arg21Leu) variant identified in TPM1 is classified as Likely Pathogenic. (less)
Clinical Features:
Cleft palate (present) , Abnormal heart morphology (present) , Cupped ear (present) , Abnormal helix morphology (present)
Secondary finding: yes
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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 of variants in genes associated with hypertrophic cardiomyopathy in Mexican patients. | García-Vielma C | Molecular genetics and genomics : MGG | 2023 | PMID: 37498360 |
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant. | Lamounier Junior A | Revista espanola de cardiologia (English ed.) | 2022 | PMID: 33642254 |
Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance. | Iglesias M | Journal of clinical medicine | 2021 | PMID: 33919104 |
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. | Harper AR | Nature genetics | 2021 | PMID: 33495597 |
The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes. | Dorsch LM | International journal of cardiology | 2021 | PMID: 32882290 |
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers. | Lorenzini M | Journal of the American College of Cardiology | 2020 | PMID: 32731933 |
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1. | Moraczewska J | Journal of muscle research and cell motility | 2020 | PMID: 31270709 |
Structural destabilization of tropomyosin induced by the cardiomyopathy-linked mutation R21H. | Ly T | Protein science : a publication of the Protein Society | 2018 | PMID: 29105867 |
Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. | Mendes de Almeida R | PloS one | 2017 | PMID: 28797094 |
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. | Mademont-Soler I | PloS one | 2017 | PMID: 28771489 |
Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data. | Alejandra Restrepo-Cordoba M | Journal of cardiovascular translational research | 2017 | PMID: 28138913 |
Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice. | Fokstuen S | Journal of medical genetics | 2011 | PMID: 21239446 |
A mutation in the N-terminus of troponin I that is associated with hypertrophic cardiomyopathy affects the Ca(2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin. | Gomes AV | Journal of molecular and cellular cardiology | 2005 | PMID: 16005017 |
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Text-mined citations for rs730881151 ...
HelpRecord last updated Apr 20, 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.