ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.2702A>G (p.Glu901Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003306268 SCV003995646 likely benign Cardiovascular phenotype 2023-04-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777168 SCV004619756 uncertain significance not provided 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1103 of the ALPK3 protein (p.Glu1103Gly). This variant is present in population databases (rs140378165, gnomAD 0.0009%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy/dilated cardiomyopathy (PMID: 32480058). ClinVar contains an entry for this variant (Variation ID: 2563939). 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 glycine 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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