ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.410dup (p.Gly138fs)

dbSNP: rs767329054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674666 SCV000800045 likely pathogenic Deficiency of galactokinase 2018-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674666 SCV000964933 pathogenic Deficiency of galactokinase 2023-08-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly138Trpfs*65) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558402). This variant has not been reported in the literature in individuals affected with GALK1-related conditions.
Baylor Genetics RCV000674666 SCV004197947 likely pathogenic Deficiency of galactokinase 2024-03-23 criteria provided, single submitter clinical testing

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