ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.127G>A (p.Val43Met) (rs145500807)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041252 SCV000064943 uncertain significance not specified 2020-01-15 criteria provided, single submitter clinical testing The p.Val43Met variant in USH1C has been reported by our laboratory in 3 individuals with hearing loss; however, none of these individuals carried a second variant in USH1C and 2 individuals carried variants in other genes associated with hearing loss (LMM Data). This variant has been identified in 0.02% (19/113482) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has been reported in ClinVar (Variation ID 47977). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.
Natera, Inc. RCV001271302 SCV001452380 uncertain significance Usher syndrome, type 1C 2020-04-11 no assertion criteria provided clinical testing
GeneDx RCV001570924 SCV001795297 uncertain significance not provided 2021-04-08 no assertion criteria provided clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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