ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.382G>A (p.Val128Met)

gnomAD frequency: 0.00001  dbSNP: rs778887800
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732601 SCV000860576 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001054710 SCV001219059 uncertain significance UDPglucose-4-epimerase deficiency 2022-06-28 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 128 of the GALE protein (p.Val128Met). This variant is present in population databases (rs778887800, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of epimerase deficiency galactosemia (Invitae). ClinVar contains an entry for this variant (Variation ID: 596687). 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"). 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.
GeneDx RCV000732601 SCV001985611 uncertain significance not provided 2019-09-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV000732601 SCV005186566 uncertain significance not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702382 SCV005205266 uncertain significance not specified 2024-06-05 criteria provided, single submitter clinical testing Variant summary: GALE c.382G>A (p.Val128Met) results in a conservative amino acid change located in the NAD(P)-binding domain (IPR016040) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 251422 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.382G>A has been reported in the literature in at least one compound heterozygous individual affected with syndromic thrombocytopenia (e.g., Marin-Quilez_2023). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 36395340). ClinVar contains an entry for this variant (Variation ID: 596687). Based on the evidence outlined above, the variant was classified as uncertain significance.
OMIM RCV003991507 SCV004809177 pathogenic Thrombocytopenia 13, syndromic 2024-04-05 no assertion criteria provided literature only

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