ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr)

gnomAD frequency: 0.00002  dbSNP: rs775673790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054417 SCV001218730 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 242 of the PCDH15 protein (p.Asn242Thr). This variant is present in population databases (rs775673790, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 850281). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001827341 SCV002094272 uncertain significance Usher syndrome type 1F 2020-12-09 no assertion criteria provided clinical testing

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