ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)

gnomAD frequency: 0.00024  dbSNP: rs150069992
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245257 SCV001418532 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1802 of the PCDH15 protein (p.Thr1802Ala). This variant is present in population databases (rs150069992, gnomAD 0.06%). 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: 969826). 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: "Not Available"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
GeneDx RCV001245257 SCV001982650 uncertain significance not provided 2021-10-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics RCV002499417 SCV002777631 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835233 SCV002085081 uncertain significance Usher syndrome type 1F 2020-01-24 no assertion criteria provided clinical testing

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