ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)

gnomAD frequency: 0.00001  dbSNP: rs768887468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054141 SCV001218440 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 109 of the HGSNAT protein (p.Ser109Tyr). This variant is present in population databases (rs768887468, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HGSNAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 850055). 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 HGSNAT protein function with a negative predictive value of 95%. 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.
Natera, Inc. RCV001275625 SCV001460909 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-02-13 no assertion criteria provided clinical testing

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