ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr)

dbSNP: rs568865061
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519130 SCV000619233 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000519130 SCV001416243 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829495 SCV002093101 uncertain significance Usher syndrome type 1F 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004537877 SCV004710280 uncertain significance PCDH15-related disorder 2023-10-27 no assertion criteria provided clinical testing The PCDH15 c.2897G>C variant is predicted to result in the amino acid substitution p.Arg966Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.15% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-55721624-C-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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