ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.94G>A (p.Val32Met)

gnomAD frequency: 0.00003  dbSNP: rs104894576
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005982 SCV000800515 uncertain significance Deficiency of galactokinase 2017-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000005982 SCV001379141 uncertain significance Deficiency of galactokinase 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 32 of the GALK1 protein (p.Val32Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with galactokinase deficiency (PMID: 7670469). ClinVar contains an entry for this variant (Variation ID: 5628). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). Experimental studies have shown that this missense change affects GALK1 function (PMID: 7670469, 12694189). 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.
Genome-Nilou Lab RCV000005982 SCV001653398 uncertain significance Deficiency of galactokinase 2021-05-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000005982 SCV004197943 likely pathogenic Deficiency of galactokinase 2024-03-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000005982 SCV005651916 likely pathogenic Deficiency of galactokinase 2024-04-29 criteria provided, single submitter clinical testing
OMIM RCV000005982 SCV000026164 pathogenic Deficiency of galactokinase 1995-07-01 no assertion criteria provided literature only

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