ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.23C>T (p.Ala8Val) (rs376511103)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667335 SCV000791768 uncertain significance Galactosylceramide beta-galactosidase deficiency 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000667335 SCV001209663 uncertain significance Galactosylceramide beta-galactosidase deficiency 2019-11-21 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 8 of the GALC protein (p.Ala8Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs376511103, ExAC 0.1%). This variant has been observed in an individual who underwent newborn screening for Krabbe disease (PMID: 26795590). This variant is also known as c.-26C>T in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV000667335 SCV001454078 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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