ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.1057G>A (p.Val353Met)

gnomAD frequency: 0.00001  dbSNP: rs749948423
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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 RCV001359978 SCV001555869 uncertain significance Deficiency of galactokinase 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 353 of the GALK1 protein (p.Val353Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs749948423, ExAC 0.006%). This missense change has been observed in individual(s) with galactokinase deficiency galactosemia (Invitae). 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: "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. RCV001359978 SCV002088887 uncertain significance Deficiency of galactokinase 2021-03-18 no assertion criteria provided clinical testing

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