ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.403G>A (p.Val135Ile)

gnomAD frequency: 0.00234  dbSNP: rs145013633
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041292 SCV000064983 benign not specified 2015-08-18 criteria provided, single submitter clinical testing p.Val135Ile in exon 5 of USH1C: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (227/66532) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs145013633).
Eurofins Ntd Llc (ga) RCV000041292 SCV000113244 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343731 SCV000369524 uncertain significance Usher syndrome type 1C 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000963575 SCV000730463 likely benign not provided 2021-09-18 criteria provided, single submitter clinical testing
Invitae RCV000963575 SCV001110740 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000343731 SCV001736828 likely benign Usher syndrome type 1C 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578830 SCV001806170 likely benign Autosomal recessive nonsyndromic hearing loss 18A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000343731 SCV001806171 likely benign Usher syndrome type 1C 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000343731 SCV001462411 benign Usher syndrome type 1C 2020-04-11 no assertion criteria provided clinical testing

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