ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.921G>A (p.Ala307=) (rs778447994)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217016 SCV000271151 likely benign not specified 2015-01-30 criteria provided, single submitter clinical testing p.Ala307Ala in exon 12 of USH1C: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9/9704 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org).
Illumina Clinical Services Laboratory,Illumina RCV000362464 SCV000369493 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.
Illumina Clinical Services Laboratory,Illumina RCV000267929 SCV000369494 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000921188 SCV001066585 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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