ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)

dbSNP: rs2142982062
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870728 SCV002130888 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-07-25 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 494 of the GALNS protein (p.Met494Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GALNS-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Met494 amino acid residue in GALNS. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9298823, 23876334; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Revvity Omics, Revvity RCV001870728 SCV003808573 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2022-03-15 criteria provided, single submitter clinical testing

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