ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.349A>C (p.Met117Leu)

dbSNP: rs145580093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377131 SCV001574371 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2020-03-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Met117 amino acid residue in GALC. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 23430802, 30089515). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to affect GALC protein function (PMID: 8940268). This variant has been observed in individual(s) with Krabbe disease (PMID: 8940268). This missense change is also known in the literature as p.Met101Leu. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with leucine at codon 117 of the GALC protein (p.Met117Leu). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and leucine.
Mayo Clinic Laboratories, Mayo Clinic RCV003481102 SCV004223945 likely pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing PP3, PM2, PM5, PS1

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