ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1027T>G (p.Ser343Ala)

dbSNP: rs397517965
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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, Mass General Brigham Personalized Medicine RCV000041666 SCV000065362 likely benign not specified 2011-08-26 criteria provided, single submitter clinical testing The Ser343Ala variant in USH2A has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, homology, PolyPhen2, SIFT, AlignGVGD, MAPP) do not suggest a high likelihood of impact to the protein. However, this information is not predictiv e enough to rule out pathogenicity. In summary, the clinical significance of thi s variant cannot be determined with certainty at this time; however based upon t he computational data, we would lean towards a more likely benign role.

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