ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile)

gnomAD frequency: 0.00005  dbSNP: rs200784596
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578653 SCV001805915 uncertain significance Autosomal recessive nonsyndromic hearing loss 23 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578695 SCV001805976 uncertain significance Usher syndrome type 1F 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001866082 SCV002191317 uncertain significance not provided 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 698 of the PCDH15 protein (p.Thr698Ile). This variant is present in population databases (rs200784596, 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: 1209592). 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: "Tolerated"; PolyPhen-2: "Possibly 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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