ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.406C>T (p.Arg136Trp) (rs368903400)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000328430 SCV000369521 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383021 SCV000369522 uncertain significance Usher syndrome, type 1C 2018-01-13 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825486 SCV000966789 uncertain significance not specified 2018-08-09 criteria provided, single submitter clinical testing The p.Arg136Trp variant in USH1C has not been previously reported in individuals with Usher syndrome or hearing loss, but has been identified in 9/126506 Europe an and 2/23994 African chromosomes by the Genome Aggregation Database (gnomAD, h ttp://gnomad.broadinstitute.org). This variant has also been reported in ClinVar (Variation ID 303815). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is no t predictive enough to rule out pathogenicity. In summary, the clinical signific ance of this variant is uncertain. ACMG/AMP Criteria applied: PP3.

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