ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys)

dbSNP: rs1358647851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001071339 SCV001236636 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1347 of the PCDH15 protein (p.Glu1347Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV005049761 SCV005675181 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-03-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828528 SCV002094751 uncertain significance Usher syndrome type 1F 2021-05-17 no assertion criteria provided clinical testing

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