ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.94G>A (p.Val32Met) (rs104894576)

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Total submissions: 4
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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
Invitae RCV000005982 SCV001379141 uncertain significance Deficiency of galactokinase 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 32 of the GALK1 protein (p.Val32Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with galactokinase deficiency (PMID: 7670469). ClinVar contains an entry for this variant (Variation ID: 5628). This variant has been reported to affect GALK1 protein 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.
Nilou-Genome Lab RCV000005982 SCV001653398 uncertain significance Deficiency of galactokinase 2021-05-18 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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