ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.381G>T (p.Gly127=) (rs41282942)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041290 SCV000064981 benign not specified 2012-05-14 criteria provided, single submitter clinical testing Gly127Gly in Exon 04 of USH1C: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 0.5% (35/7020) of Europea n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs41282942) and has been identifie d in cis with a pathogenic variant (Zwaenepoel 2001).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041290 SCV000335374 benign not specified 2015-09-22 criteria provided, single submitter clinical testing
GeneDx RCV000041290 SCV000730462 likely benign not specified 2017-12-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000958386 SCV001105223 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106427 SCV001263492 uncertain significance Usher syndrome, type 1C 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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