ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.916G>A (p.Ala306Thr)

gnomAD frequency: 0.00001  dbSNP: rs1349064845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666688 SCV000791024 uncertain significance Galactosylceramide beta-galactosidase deficiency 2017-04-19 criteria provided, single submitter clinical testing
Mendelics RCV000666688 SCV002516434 pathogenic Galactosylceramide beta-galactosidase deficiency 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666688 SCV004295344 uncertain significance Galactosylceramide beta-galactosidase deficiency 2024-01-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 306 of the GALC protein (p.Ala306Thr). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with Krabbe disease (PMID: 30089515). ClinVar contains an entry for this variant (Variation ID: 551587). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GALC protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GALC 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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