ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) (rs200219480)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000271252 SCV000341395 uncertain significance not provided 2016-04-18 criteria provided, single submitter clinical testing
Invitae RCV000812178 SCV000952482 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 573 of the GALC protein (p.Thr573Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs200219480, ExAC 0.1%). This variant has not been reported in the literature in individuals with GALC-related disease. ClinVar contains an entry for this variant (Variation ID: 287587). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. RCV000812178 SCV001461637 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-04-18 no assertion criteria provided clinical testing

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