ClinVar Miner

Submissions for variant NM_000154.2(GALK1):c.853_874del (p.Ile285fs)

dbSNP: rs770087254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674786 SCV000800183 likely pathogenic Deficiency of galactokinase 2018-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000674786 SCV001584384 pathogenic Deficiency of galactokinase 2023-05-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 558505). This variant has not been reported in the literature in individuals affected with GALK1-related conditions. This variant is present in population databases (rs770087254, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Ile285Argfs*4) 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).
Revvity Omics, Revvity RCV000674786 SCV002025246 likely pathogenic Deficiency of galactokinase 2021-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674786 SCV004197924 likely pathogenic Deficiency of galactokinase 2023-10-24 criteria provided, single submitter clinical testing

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