ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.7dup (p.Glu3fs)

dbSNP: rs1555384381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665941 SCV000790153 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2017-03-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000665941 SCV001528221 pathogenic Galactosylceramide beta-galactosidase deficiency 2018-02-19 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV000665941 SCV004394891 pathogenic Galactosylceramide beta-galactosidase deficiency 2023-01-23 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: 550993). This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu3Glyfs*86) in the GALC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GALC are known to be pathogenic (PMID: 7437911, 9272171, 16607461).

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