ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.766C>T (p.Arg256Trp)

gnomAD frequency: 0.00010  dbSNP: rs376790302
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800933 SCV000940678 pathogenic Deficiency of galactokinase 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 256 of the GALK1 protein (p.Arg256Trp). This variant is present in population databases (rs376790302, gnomAD 0.09%). This missense change has been observed in individuals with clinical features of galactosemia (PMID: 10570908, 17517531, 28418495). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 646613). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALK1 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects GALK1 function (PMID: 10570908, 17517531). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000800933 SCV002024147 pathogenic Deficiency of galactokinase 2020-12-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000800933 SCV004197923 likely pathogenic Deficiency of galactokinase 2024-03-16 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000800933 SCV004809946 likely pathogenic Deficiency of galactokinase 2024-04-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000800933 SCV001463624 pathogenic Deficiency of galactokinase 2020-09-16 no assertion criteria provided clinical testing

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