ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)

gnomAD frequency: 0.00004  dbSNP: rs369280586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002537850 SCV003475855 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 335 of the HGSNAT protein (p.Leu335Phe). This variant is present in population databases (rs369280586, gnomAD 0.004%). 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: 991273). 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. 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. RCV001279458 SCV001466553 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-08-13 no assertion criteria provided clinical testing

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