ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) (rs757407613)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806470 SCV000946473 pathogenic Galactosylceramide beta-galactosidase deficiency 2019-11-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 335 of the GALC protein (p.Tyr335Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs757407613, ExAC 0.003%). This variant has been observed in individual(s) with infantile Krabbe disease (PMID: 10234611, 22115770). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect GALC protein function (PMID: 27126738, 10234611, 27638593). For these reasons, this variant has been classified as Pathogenic.

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