ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4616A>T (p.Asn1539Ile)

dbSNP: rs780662896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070437 SCV001235667 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 1539 of the PCDH15 protein (p.Asn1539Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is present in population databases (rs780662896, ExAC 0.002%). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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.
Fulgent Genetics, Fulgent Genetics RCV002497480 SCV002785300 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-08-20 criteria provided, single submitter clinical testing

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