ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=)

gnomAD frequency: 0.00001  dbSNP: rs201636125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000895972 SCV001040041 likely benign not provided 2024-09-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017759 SCV004848608 likely benign not specified 2021-12-16 criteria provided, single submitter clinical testing The p.Ala734Ala variant in PCDH15 is classified as likely benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.03264% (6/18382) of East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: PM2_Supporting, BP4, BP7.
Natera, Inc. RCV001273397 SCV001456431 uncertain significance Usher syndrome type 1F 2020-04-17 no assertion criteria provided clinical testing

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