ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.163A>G (p.Met55Val)

dbSNP: rs925336919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001368488 SCV001564883 uncertain significance Deficiency of galactokinase 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 55 of the GALK1 protein (p.Met55Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1059246). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001368488 SCV002089505 uncertain significance Deficiency of galactokinase 2020-11-28 no assertion criteria provided clinical testing

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