ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1386G>A (p.Gln462=)

gnomAD frequency: 0.00021  dbSNP: rs141564204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883516 SCV001026828 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195474 SCV001365851 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gln462Gln in Exon 16 of USH1C: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (4/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141564204).
GeneDx RCV000883516 SCV001768186 likely benign not provided 2020-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955865 SCV004781596 likely benign USH1C-related condition 2019-08-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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