ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12633T>G (p.Ile4211Met)

gnomAD frequency: 0.00001  dbSNP: rs727503716
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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 RCV000152567 SCV000201817 uncertain significance not specified 2013-10-17 criteria provided, single submitter clinical testing The Ile4211Met variant in USH2A has not been reported in individuals with hearin g loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ile4211Met variant may not impact the protein, though this information is not p redictive enough to rule out pathogenicity. In summary, additional data is neede d to determine the clinical significance of this variant.

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