ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.47T>G (p.Val16Gly)

gnomAD frequency: 0.00002  dbSNP: rs794729202
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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 RCV001885484 SCV002113943 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-06-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GALNS-related conditions. This sequence change replaces valine with glycine at codon 16 of the GALNS protein (p.Val16Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. 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. 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: "Benign"; Align-GVGD: "Class C0"). 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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