ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)

gnomAD frequency: 0.00001  dbSNP: rs1200769534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671847 SCV000796876 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-01-03 criteria provided, single submitter clinical testing
Mendelics RCV000671847 SCV002516340 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2022-05-04 criteria provided, single submitter clinical testing
Invitae RCV000671847 SCV003442356 uncertain significance Galactosylceramide beta-galactosidase deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 392 of the GALC protein (p.Ser392Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GALC-related conditions. This variant is also known as S376P. ClinVar contains an entry for this variant (Variation ID: 555927). 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. 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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