ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.987G>A (p.Val329=)

gnomAD frequency: 0.00018  dbSNP: rs184160171
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951574 SCV001097986 benign Deficiency of galactokinase 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000951574 SCV001281580 likely benign Deficiency of galactokinase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera, Inc. RCV000951574 SCV001463623 benign Deficiency of galactokinase 2020-09-16 no assertion criteria provided clinical testing

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