ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315599 SCV001506178 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-07-30 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 343 of the HGSNAT protein (p.Val343Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HGSNAT-related conditions. 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. 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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