ClinVar Miner

Submissions for variant NM_020778.5(ALPK3):c.4000G>A (p.Val1334Met)

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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 RCV003831967 SCV004639756 uncertain significance not provided 2022-11-04 criteria provided, single submitter clinical testing 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. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1536 of the ALPK3 protein (p.Val1536Met). This variant is present in population databases (rs377209768, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ALPK3-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ALPK3 protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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