ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1803A>G (p.Ala601=)

gnomAD frequency: 0.00009  dbSNP: rs372465848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001456200 SCV001659977 likely benign Galactosylceramide beta-galactosidase deficiency 2023-09-20 criteria provided, single submitter clinical testing
GeneDx RCV002276740 SCV002567605 uncertain significance not provided 2022-02-16 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003900567 SCV004714304 likely benign GALC-related condition 2021-10-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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