ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.66G>T (p.Met22Ile)

gnomAD frequency: 0.00001  dbSNP: rs1427287935
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046137 SCV001210026 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2019-12-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GALNS-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces methionine with isoleucine at codon 22 of the GALNS protein (p.Met22Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine.

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