ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.343G>A (p.Val115Met)

gnomAD frequency: 0.00209  dbSNP: rs143570915
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Total submissions: 6
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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 RCV000039726 SCV000063415 benign not specified 2015-07-21 criteria provided, single submitter clinical testing p.Val115Met in exon 5 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (60/10352) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org, dbSNP rs143570915).
Eurofins Ntd Llc (ga) RCV000039726 SCV000343796 likely benign not specified 2016-08-03 criteria provided, single submitter clinical testing
GeneDx RCV000839729 SCV000981633 likely benign not provided 2018-03-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000839729 SCV001024301 likely benign not provided 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002513555 SCV003658832 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.343G>A (p.V115M) alteration is located in exon 5 (coding exon 4) of the PCDH15 gene. This alteration results from a G to A substitution at nucleotide position 343, causing the valine (V) at amino acid position 115 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004534842 SCV004743777 likely benign PCDH15-related disorder 2020-02-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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