ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.238G>T (p.Glu80Ter)

dbSNP: rs104894577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005983 SCV004297551 pathogenic Deficiency of galactokinase 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 5629). This premature translational stop signal has been observed in individual(s) with galactokinase deficiency galactosemia (PMID: 7670469). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu80*) in the GALK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALK1 are known to be pathogenic (PMID: 7670469, 10790206).
OMIM RCV000005983 SCV000026165 pathogenic Deficiency of galactokinase 1995-07-01 no assertion criteria provided literature only

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