ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.206G>A (p.Arg69Gln) (rs371523347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664786 SCV000788799 uncertain significance Galactosylceramide beta-galactosidase deficiency 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000664786 SCV001418079 uncertain significance Galactosylceramide beta-galactosidase deficiency 2019-07-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 69 of the GALC protein (p.Arg69Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371523347, ExAC 0.005%). This variant has been observed in an individual with a positive newborn screening result for GALC-related disease (PMID: 26795590). ClinVar contains an entry for this variant (Variation ID: 550136). This variant has been reported to have conflicting or insufficient data to determine the effect on 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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