ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.235C>T (p.Arg79Cys) (rs73312829)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811717 SCV000951998 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 79 of the GALC protein (p.Arg79Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs73312829, ExAC 0.09%). This variant has been observed in individuals that were positive for Krabbe disease during newborn screening (NBS) (PMID: 26795590). Experimental studies have shown that this missense change disrupts GALC enzymatic activity (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.
Natera, Inc. RCV000811717 SCV001454076 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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