ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1234G>A (p.Asp412Asn) (rs727503712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152551 SCV000201764 uncertain significance not specified 2013-11-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Asp412Asn varia nt in USH1C has not been previously reported in individuals with hearing loss or in large population studies. Computational analyses (biochemical amino acid pro perties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Asp412As n variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; however based upon the computationa l data, we would lean towards a more likely benign role.
Invitae RCV001411432 SCV001613495 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing

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