VCV000030935.34 - ClinVar

NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)

Germline

Classification

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.

(22)

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.

Pathogenic/Likely pathogenic

criteria provided, multiple submitters, no conflicts

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)

Variation ID: 30935 Accession: VCV000030935.34

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 2q24.3 2: 165941111 (GRCh38) [ NCBI UCSC ] 2: 166797621 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	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	Oct 11, 2015	Oct 8, 2024	Jan 14, 2024

HGVS

Nucleotide	Protein	Molecular consequence
NM_024753.5:c.626C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_079029.3:p.Pro209Leu	missense
NC_000002.12:g.165941111G>A
NC_000002.11:g.166797621G>A
NG_030345.1:g.17728C>T
	Q7Z4L5:p.Pro209Leu

... more HGVS ... less HGVS

Protein change

P209L

Other names

Canonical SPDI

NC_000002.12:165941110:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The 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.

Allele frequency Help The frequency of the allele represented by this VCV record.

Exome Aggregation Consortium (ExAC) 0.00007

The Genome Aggregation Database (gnomAD) 0.00011

The Genome Aggregation Database (gnomAD), exomes 0.00013

Trans-Omics for Precision Medicine (TOPMed) 0.00014

NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015

Links

OMIM: 612014.0001 dbSNP: rs140511594 ClinGen: CA259949 UniProtKB: Q7Z4L5#VAR_065518 VarSome

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
Gene	OMIM	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.
TTC21B		-	-	GRCh38 GRCh37	1123	1326
TTC21B-AS1	-	-	-	GRCh38	-	152

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.
Nephronophthisis 12	Pathogenic/Likely pathogenic (6)	criteria provided, multiple submitters, no conflicts	Dec 1, 2022	RCV000023924.13
not provided	Pathogenic (6)	criteria provided, multiple submitters, no conflicts	Apr 25, 2022	RCV000681870.12
Jeune thoracic dystrophy Nephronophthisis	Pathogenic (1)	criteria provided, single submitter	Jan 14, 2024	RCV000685092.5
Asphyxiating thoracic dystrophy 4 Nephronophthisis 12	Pathogenic (1)	criteria provided, single submitter	May 19, 2022	RCV000763456.3
Finnish congenital nephrotic syndrome	Pathogenic (1)	no assertion criteria provided	Nov 21, 2018	RCV000786982.2
Infantile nephronophthisis	Pathogenic (1)	criteria provided, single submitter	Jan 28, 2019	RCV000857219.1
Renal dysplasia and retinal aplasia	Likely pathogenic (1)	no assertion criteria provided	Jun 23, 2019	RCV001003236.1
Retinal dystrophy	Pathogenic (1)	criteria provided, single submitter	Sep 22, 2017	RCV001074967.2
Nephrotic syndrome	Pathogenic/Likely pathogenic (2)	no assertion criteria provided	May 3, 2018	RCV001328175.2
See cases	Pathogenic (1)	criteria provided, single submitter	May 10, 2021	RCV002251925.2
TTC21B-related disorder	Pathogenic (1)	no assertion criteria provided	Aug 30, 2024	RCV004528134.2
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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.
Pathogenic (Jun 26, 2017)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Nephronophthisis 12 (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard Study: Broad Institute Center for Mendelian Genomics (CMG) Accession: SCV000693904.1 First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015	Publications: PubMed (2) PubMed: 24876116‚ 26940125 Comment: Previously reported homozygous missense mutation (p.P209L) in the TTC21B gene in seven families with FSGS (PMID: 26940125). Number of individuals with the variant: 1 Clinical Features: Cystic kidney disease (present) , Enlarged-cystic kidneys (present) , Congenital liver fibrosis (present) Ethnicity/Population group: Caucasian
Pathogenic (Sep 16, 2018)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	not provided Affected status: yes Allele origin: germline	Gharavi Laboratory, Columbia University Accession: SCV000809349.1 First in ClinVar: Oct 01, 2018 Last updated: Oct 01, 2018
Pathogenic (Jan 01, 2015)	criteria provided, single submitter (ACMG Guidelines, 2007) Method: clinical testing	Nephronophthisis 12 Affected status: yes Allele origin: inherited	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne Accession: SCV000965772.1 First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019
Pathogenic (May 10, 2021)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	See cases Affected status: yes Allele origin: germline	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein Accession: SCV002523162.1 First in ClinVar: Jun 09, 2022 Last updated: Jun 09, 2022	Comment: ACMG classification criteria: PS3, PM3, PP1, PP3 Clinical Features: Interstitial nephritis (present) , Renal insufficiency (present) , Hyperuricosuria (present) , Hyperuricemia (present) , Abnormal renal tubule morphology (present) , Abnormal renal insterstitial morphology (present)
Pathogenic (May 19, 2022)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Asphyxiating thoracic dystrophy 4 Nephronophthisis 12 Affected status: unknown Allele origin: unknown	Fulgent Genetics, Fulgent Genetics Accession: SCV000894233.2 First in ClinVar: Mar 31, 2019 Last updated: Dec 31, 2022	Publications: PubMed (1) PubMed: 25741868 pmc: 4544753 pmc: 4544753 DOI: 10.1038/gim.2015.30 DOI: 10.1038/gim.2015.30
Pathogenic (Dec 01, 2022)	criteria provided, single submitter (Accession Criteria ClinVar Biomnis) Method: clinical testing	Nephronophthisis 12 Affected status: yes Allele origin: biparental	Eurofins-Biomnis Accession: SCV003935133.1 First in ClinVar: Jun 24, 2023 Last updated: Jun 24, 2023
Pathogenic (Nov 24, 2019)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not provided Affected status: unknown Allele origin: germline	Revvity Omics, Revvity Accession: SCV002022453.3 First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024
Pathogenic (Jan 14, 2024)	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) Method: clinical testing	Jeune thoracic dystrophy Nephronophthisis 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	Labcorp Genetics (formerly Invitae), Labcorp Accession: SCV000812564.4 First in ClinVar: Oct 10, 2018 Last updated: Feb 28, 2024	Publications: PubMed (3) PubMed: 28492532‚ 21258341‚ 24876116 Comment: This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 209 of the TTC21B protein (p.Pro209Leu). … (more) This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 209 of the TTC21B protein (p.Pro209Leu). This variant is present in population databases (rs140511594, gnomAD 0.08%). This missense change has been observed in individual(s) with focal segmental glomerulosclerosis and nephronophthisis (PMID: 21258341, 24876116). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30935). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TTC21B protein function. Experimental studies have shown that this missense change affects TTC21B function (PMID: 21258341, 24876116). For these reasons, this variant has been classified as Pathogenic. (less)
Pathogenic (Jan 28, 2019)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	Infantile nephronophthisis Affected status: yes Allele origin: maternal	Center of Genomic medicine, Geneva, University Hospital of Geneva Accession: SCV000999803.1 First in ClinVar: Dec 17, 2019 Last updated: Dec 17, 2019	Publications: PubMed (1) PubMed: 25741868 DOI: 10.1038/gim.2015.30 DOI: 10.1038/gim.2015.30 Comment: This variant was identified in composite heterozygosity with another variant in the same gene in a female patient with nephronophtisis, retinopathy and suspected ciliopathy Number of individuals with the variant: 2 Age: 30-39 years Sex: female
Pathogenic (Sep 22, 2017)	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme) Method: clinical testing	Retinal dystrophy Affected status: yes Allele origin: germline	Blueprint Genetics Accession: SCV001240574.1 First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 Comment: My Retina Tracker patient
Likely pathogenic (Feb 01, 2020)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: research	Nephronophthisis 12 Affected status: yes Allele origin: inherited	Molecular Biology Laboratory, Fundació Puigvert Study: KidneyPanel_2020 Accession: SCV001425282.1 First in ClinVar: Jan 17, 2021 Last updated: Jan 17, 2021	Publications: PubMed (1) PubMed: 33532864
Pathogenic (Apr 25, 2022)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001805755.3 First in ClinVar: Aug 21, 2021 Last updated: Mar 04, 2023	Comment: Published functional studies demonstrate a damaging effect (Huynh Cong et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on … (more) Published functional studies demonstrate a damaging effect (Huynh Cong et al., 2014); 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: 24876116, 21258341, 29127259, 31456290, 32714622, 33599192, 34426522, 33712733, 31589614, 33226606, 33547761, 33532864, 26940125) (less)
Pathogenic (Mar 01, 2011)	no assertion criteria provided Method: literature only	NEPHRONOPHTHISIS 12 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000045215.2 First in ClinVar: Apr 04, 2013 Last updated: Jun 21, 2018	Publications: PubMed (1) PubMed: 21258341 Comment on evidence: In affected members of 2 unrelated consanguineous families with nephronophthisis-12 (NPHP12; 613820), Davis et al. (2011) identified a homozygous mutation in exon 6 of the … (more) In affected members of 2 unrelated consanguineous families with nephronophthisis-12 (NPHP12; 613820), Davis et al. (2011) identified a homozygous mutation in exon 6 of the TTC21B gene, resulting in a pro209-to-leu (P209L) substitution in a TPR domain. One family was of Portuguese and the other of Egyptian descent. The mutation was not found in 796 controls. In vitro and in vivo functional expression studies in mammalian cells and zebrafish indicated that the mutant protein was a hypomorphic allele. In 2 additional families with early-onset NPHP with extrarenal manifestations, the P209L allele was found in compound heterozygosity with another pathogenic TTC21B allele: a cys552-to-ter (C552X; 612014.0002) substitution in exon 13 and an A-to-G transition in intron 20 (612014.0003), respectively. Both of the latter mutations were shown by expression studies to be functionally null alleles. Haplotype analysis indicated a founder effect for the P209L allele. (less)
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, Amsterdam University Medical Center Study: VKGL Data-share Consensus Accession: SCV001807047.1 First in ClinVar: Aug 27, 2021 Last updated: Aug 27, 2021
Pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	Genome Diagnostics Laboratory, University Medical Center Utrecht Additional submitter: Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen Study: VKGL Data-share Consensus Accession: SCV001929844.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021
Likely pathogenic (-)	no assertion criteria provided Method: clinical testing	not provided Affected status: yes Allele origin: germline	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: SCV001952961.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021
Pathogenic (-)	no assertion criteria provided Method: research	Nephronophthisis 12 Affected status: yes Allele origin: unknown	Genomics And Bioinformatics Analysis Resource, Columbia University Accession: SCV004024139.1 First in ClinVar: Aug 13, 2023 Last updated: Aug 13, 2023 Comment: Compound Heterozygous
Pathogenic (Aug 30, 2024)	no assertion criteria provided Method: clinical testing	TTC21B-related condition Affected status: unknown Allele origin: germline	PreventionGenetics, part of Exact Sciences Accession: SCV004107728.2 First in ClinVar: Nov 20, 2023 Last updated: Oct 08, 2024	Comment: The TTC21B c.626C>T variant is predicted to result in the amino acid substitution p.Pro209Leu. This variant was reported in the homozygous or compound heterozygous state … (more) The TTC21B c.626C>T variant is predicted to result in the amino acid substitution p.Pro209Leu. This variant was reported in the homozygous or compound heterozygous state in multiple individuals with nephronophthisis or focal segmental glomerulosclerosis (FSGS) (Davis et al. 2011. PubMed ID: 21258341; Bullich et al. 2017. PubMed ID: 26940125; Cong et al. 2014. PubMed ID: 24876116). This variant is reported in 0.077% of alleles in individuals of Ashkenazi Jewish descent in gnomAD and has been interpreted in ClinVar as pathogenic/likely pathogenic by multiple submitters (https://preview.ncbi.nlm.nih.gov/clinvar/variation/30935/). This variant is interpreted as pathogenic. (less)
Pathogenic (Nov 21, 2018)	no assertion criteria provided Method: clinical testing	Finnish congenital nephrotic syndrome Affected status: yes Allele origin: germline	Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare Accession: SCV000925888.1 First in ClinVar: Jul 14, 2019 Last updated: Jul 14, 2019
Likely pathogenic (Jun 23, 2019)	no assertion criteria provided Method: research	Senior Loken syndrome Affected status: yes Allele origin: inherited	Sharon lab, Hadassah-Hebrew University Medical Center Accession: SCV001161315.1 First in ClinVar: Feb 16, 2020 Last updated: Feb 16, 2020
Pathogenic (May 03, 2018)	no assertion criteria provided Method: clinical testing	Nephrotic syndrome Affected status: yes Allele origin: unknown	Sydney Genome Diagnostics, Children's Hospital Westmead Accession: SCV001449463.1 First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021	Comment: This patient is homozygous for a known pathogenic variant, c.626C>T p.(Pro209Leu), in the TTC21B gene. This variant (dbSNP: rs140511594), in the homozygous state, has been … (more) This patient is homozygous for a known pathogenic variant, c.626C>T p.(Pro209Leu), in the TTC21B gene. This variant (dbSNP: rs140511594), in the homozygous state, has been previously reported in patients with nephronophthisis and focal segmental glomerulosclerosis (FSGS) (Davis et al 2011 Nat Genet 43:189-196; Cong et al 2014 J Am Soc Nephrol 25:2435-2443; Bullich et al 2017 Nephrol Dial Transplant 32:151-156). Bullich et al 2017 also reported hypertension in some patients homozygous for p.(Pro209Leu). This variant was found in patients of North Africian or Portuguese descent. Functional studies showed the p.Pro209Leu variant partially altered cilia structure, cell migration and cytoskeleton suggesting a hypomorphic allele (Davis et al 2011; Cong et al 2014; Bullich et al 2017). This variant is considered to be pathogenic according to the ACMG guidelines. (less) Number of individuals with the variant: 1
Likely pathogenic (Nov 10, 2017)	no assertion criteria provided Method: literature only	Nephrotic syndrome Affected status: yes Allele origin: germline	Yale Center for Mendelian Genomics, Yale University Study: Yale Center for Mendelian Genomics Accession: SCV002107060.1 First in ClinVar: Mar 28, 2022 Last updated: Mar 28, 2022	Publications: PubMed (1) PubMed: 29127259
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Comment:

This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 209 of the TTC21B protein (p.Pro209Leu). This variant is present in population databases (rs140511594, gnomAD 0.08%). This missense change has been observed in individual(s) with focal segmental glomerulosclerosis and nephronophthisis (PMID: 21258341, 24876116). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30935). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TTC21B protein function. Experimental studies have shown that this missense change affects TTC21B function (PMID: 21258341, 24876116). For these reasons, this variant has been classified as Pathogenic.

Comment:

Published functional studies demonstrate a damaging effect (Huynh Cong et al., 2014); 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: 24876116, 21258341, 29127259, 31456290, 32714622, 33599192, 34426522, 33712733, 31589614, 33226606, 33547761, 33532864, 26940125)

Comment:

The TTC21B c.626C>T variant is predicted to result in the amino acid substitution p.Pro209Leu. This variant was reported in the homozygous or compound heterozygous state in multiple individuals with nephronophthisis or focal segmental glomerulosclerosis (FSGS) (Davis et al. 2011. PubMed ID: 21258341; Bullich et al. 2017. PubMed ID: 26940125; Cong et al. 2014. PubMed ID: 24876116). This variant is reported in 0.077% of alleles in individuals of Ashkenazi Jewish descent in gnomAD and has been interpreted in ClinVar as pathogenic/likely pathogenic by multiple submitters (https://preview.ncbi.nlm.nih.gov/clinvar/variation/30935/). This variant is interpreted as pathogenic.

Comment:

This patient is homozygous for a known pathogenic variant, c.626C>T p.(Pro209Leu), in the TTC21B gene. This variant (dbSNP: rs140511594), in the homozygous state, has been previously reported in patients with nephronophthisis and focal segmental glomerulosclerosis (FSGS) (Davis et al 2011 Nat Genet 43:189-196; Cong et al 2014 J Am Soc Nephrol 25:2435-2443; Bullich et al 2017 Nephrol Dial Transplant 32:151-156). Bullich et al 2017 also reported hypertension in some patients homozygous for p.(Pro209Leu). This variant was found in patients of North Africian or Portuguese descent. Functional studies showed the p.Pro209Leu variant partially altered cilia structure, cell migration and cytoskeleton suggesting a hypomorphic allele (Davis et al 2011; Cong et al 2014; Bullich et al 2017). This variant is considered to be pathogenic according to the ACMG guidelines.

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.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.	Domingo-Gallego A	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association	2022	PMID: 33532864
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.	Warejko JK	Clinical journal of the American Society of Nephrology : CJASN	2018	PMID: 29127259
Contribution of the TTC21B gene to glomerular and cystic kidney diseases.	Bullich G	Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association	2017	PMID: 26940125
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.	Huynh Cong E	Journal of the American Society of Nephrology : JASN	2014	PMID: 24876116
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.	Davis EE	Nature genetics	2011	PMID: 21258341

Text-mined citations for rs140511594 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 03, 2024

ClinVar Genomic variation as it relates to human health

NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs140511594 ...