ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.566G>A (p.Arg189Gln) (rs201644674)

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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 RCV000041422 SCV000065117 benign not specified 2015-01-26 criteria provided, single submitter clinical testing p.Arg189Gln in exon 2 of USH1G: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (137/16376) of South Asian chr omosomes and 0.2% (113/63034) of European chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201644674).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041422 SCV000335131 likely benign not specified 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV000958231 SCV001105060 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001124409 SCV001283356 uncertain significance Usher syndrome, type 1G 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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