ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser)

gnomAD frequency: 0.00002  dbSNP: rs150111302
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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 RCV002002622 SCV002254064 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2022-07-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected 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. 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 not expected to disrupt GALNS protein function. ClinVar contains an entry for this variant (Variation ID: 1471344). This variant is present in population databases (rs150111302, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 367 of the GALNS protein (p.Asn367Ser).

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