ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met)

gnomAD frequency: 0.00003  dbSNP: rs370933593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578649 SCV001805911 uncertain significance Autosomal recessive nonsyndromic hearing loss 23 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578650 SCV001805912 uncertain significance Usher syndrome type 1F 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001810099 SCV002056051 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001810099 SCV003445592 uncertain significance not provided 2022-08-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 301 of the PCDH15 protein (p.Thr301Met). This variant is present in population databases (rs370933593, gnomAD 0.04%). 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: 1209591). 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: "Probably Damaging"; 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.

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