ClinVar Miner

Submissions for variant NM_005709.4(USH1C):c.1266G>A (p.Thr422=)

gnomAD frequency: 0.00558  dbSNP: rs35188020
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Total submissions: 6
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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 RCV000038631 SCV000062309 benign not specified 2012-12-11 criteria provided, single submitter clinical testing Thr422Thr in Exon 15B of USH1C: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.6% (61/3734) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35188020).
Eurofins Ntd Llc (ga) RCV000038631 SCV000203770 benign not specified 2014-04-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285425 SCV000369480 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000959903 SCV000731187 benign not provided 2019-06-07 criteria provided, single submitter clinical testing
Invitae RCV000959903 SCV001106842 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000285425 SCV002084511 benign Usher syndrome type 1C 2019-10-18 no assertion criteria provided clinical testing

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