ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.581G>C (p.Gly194Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248182 SCV001421651 uncertain significance Galactosylceramide beta-galactosidase deficiency 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 194 of the GALC protein (p.Gly194Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Krabbe syndrome (PMID: 9338580). This variant is also known as G178A in the literature. This variant has been reported to affect GALC protein function (PMID: 27638593). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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