ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)

dbSNP: rs377100683
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Total submissions: 3
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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 RCV000039143 SCV000062827 uncertain significance not specified 2013-02-22 criteria provided, single submitter clinical testing The Val1045Leu variant in CDH23 has not been reported in the literature nor prev iously identified by our laboratory. This variant has been identified in 0.05% ( 2/4268) of African American chromosomes in a broad population by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/). Although this variant h as been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (biochemical amino acid propertie s, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support f or or against an impact to the protein. In summary, additional data is needed to determine the clinical significance of this variant.
Invitae RCV001243389 SCV001416545 likely benign not provided 2023-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826568 SCV002092368 uncertain significance Usher syndrome type 1 2019-10-28 no assertion criteria provided clinical testing

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