ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.592A>T (p.Ser198Cys) (rs141771249)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041299 SCV000064990 uncertain significance not specified 2012-04-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser198Cys varia nt in USH1C has not been reported in the literature nor previously identified by our laboratory. However, this variant has been identified in 1/7020 (0.01%) Eur opean American chromosomes and 1/3108 (0.0%) African American chromosomes from a broad population (NHLBI Exome Sequencing Project; http://evs.gs.washington.edu/ EVS). Computational analyses (biochemical amino acid properties, conservation, P olyPhen2, and SIFT) suggest that the Ser198Cys variant may not impact the protei n, particularly based upon lack of conservation even in mammals, though this inf ormation is not predictive enough to rule out pathogenicity. In summary, the cli nical significance of this variant cannot be determined with certainty; however based upon lack of conservation, we would lean towards a more likely benign role .

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