ClinVar Miner

Submissions for variant NM_001042517.2(DIAPH3):c.3050A>G (p.Lys1017Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005203196 SCV005835477 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1017 of the DIAPH3 protein (p.Lys1017Arg). This variant is present in population databases (rs766596005, gnomAD 0.02%). This missense change has been observed in individual(s) with auditory neuropathy spectrum disorder (PMID: 23562982). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine 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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