ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.938C>A (p.Pro313His)

gnomAD frequency: 0.00003  dbSNP: rs397518047
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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 RCV000041951 SCV000065647 uncertain significance not specified 2011-02-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro313His varia nt in USH2A has not been reported in the literature nor previously identified by our laboratory. Computational analyses (biochemical amino acid properties, homo logy, PolyPhen2, SIFT, AlignGVGD, MAPP) do not provide strong support for or aga inst pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time.

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