ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4797G>C (p.Gln1599His)

dbSNP: rs563147370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208713 SCV001380118 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1599 of the PCDH15 protein (p.Gln1599His). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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