ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.102_103dup (p.Pro35fs)

dbSNP: rs771067891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666168 SCV000790415 likely pathogenic Deficiency of galactokinase 2017-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666168 SCV004547484 pathogenic Deficiency of galactokinase 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro35Argfs*27) 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). This variant is present in population databases (rs771067891, gnomAD 0.001%). This variant has not been reported in the literature in individuals affected with GALK1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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