ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.908G>A (p.Arg303Gln) (rs397517884)

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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 RCV000041303 SCV000064994 uncertain significance not specified 2010-10-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Arg303Gln varia nt in USH1C has not been reported in the literature nor previously identified by our laboratory. The Arg303 residue is conserved across mammals though not in lo wer species and computational analyses (PolyPhen, SIFT, AlignGVGD) do not sugges t a high likelihood of impact to the protein. However, this information is not p redictive enough to rule out pathogenicity.

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