ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)

gnomAD frequency: 0.00002  dbSNP: rs201681295
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244125 SCV001417325 uncertain significance Deficiency of galactokinase 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 310 of the GALK1 protein (p.Ser310Gly). This variant is present in population databases (rs201681295, gnomAD 0.03%). 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: 968887). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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. RCV001244125 SCV002088891 uncertain significance Deficiency of galactokinase 2021-10-14 no assertion criteria provided clinical testing

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