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NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Nov 21, 2020
Accession:
VCV000047986.8
Variation ID:
47986
Description:
single nucleotide variant
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NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys)

Allele ID
57150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17509463 (GRCh38) GRCh38 UCSC
11: 17531010 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17531010G>A
NC_000011.10:g.17509463G>A
NG_011883.1:g.39954C>T
... more HGVS
Protein change
R636C
Other names
-
Canonical SPDI
NC_000011.10:17509462:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00131
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00162
Exome Aggregation Consortium (ExAC) 0.00045
The Genome Aggregation Database (gnomAD) 0.00118
Links
ClinGen: CA142315
dbSNP: rs149510892
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter May 16, 2012 RCV000041262.4
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Nov 21, 2020 RCV000725958.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH1C - - GRCh38
GRCh37
702 725

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 16, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000064953.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
Arg636Cys in Exon 18 of USH1C: This variant has been reported in one individual with prelingual severe to profound deafness with no vision abnormalities (Ouyang … (more)
Uncertain significance
(May 03, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000340855.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001027288.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 06, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001824581.1
Submitted: (Sep 02, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 12136232, 30245029)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Ouyang XM Human genetics 2002 PMID: 12136232
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=USH1C - - - -

Text-mined citations for rs149510892...

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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 Sep 29, 2021