ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.157C>T (p.Arg53Trp)

gnomAD frequency: 0.00003  dbSNP: rs752371343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673949 SCV000799210 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-04-06 criteria provided, single submitter clinical testing
Invitae RCV000673949 SCV004297158 uncertain significance Galactosylceramide beta-galactosidase deficiency 2023-05-27 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 557770). This missense change has been observed in individual(s) with Krabbe disease (PMID: 21824559). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 53 of the GALC protein (p.Arg53Trp).

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