ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.674C>A (p.Ala225Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237593 SCV001410359 uncertain significance Galactosylceramide beta-galactosidase deficiency 2019-10-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 225 of the GALC protein (p.Ala225Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs373077659, ExAC 0.002%). This variant has been observed in individuals with a positive newborn screening result for GALC-related disease (PMID: 26795590, 30777126). This variant is also known as c.626C>A p.Ala209Glu 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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