ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)

gnomAD frequency: 0.00001  dbSNP: rs538620581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058262 SCV001222820 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-08-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs538620581, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 422 of the HGSNAT protein (p.Pro422Ser). This missense change has been observed in individual(s) with clinical features of HGSNAT-related conditions (Invitae). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on HGSNAT protein function. ClinVar contains an entry for this variant (Variation ID: 853455).
Fulgent Genetics, Fulgent Genetics RCV001058262 SCV002788854 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2021-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275633 SCV001460921 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-04-14 no assertion criteria provided clinical testing

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