ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5200G>A (p.Val1734Met)

dbSNP: rs397517335
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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 RCV000039203 SCV000062887 likely benign not specified 2010-12-06 criteria provided, single submitter clinical testing Val1734Met in exon 41 of CDH23: This variant has not been reported in the litera ture. Computational analyses (biochemical amino acid properties, homology, PolyP hen, SIFT, AlignGVGD) do not provide strong support for pathogenicity. In additi on, this variant was found in a patient with two pathogenic variants which suffi ciently explained their hearing loss. In summary, this data suggests this varian t is more likely benign.

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