ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) (rs1318217031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000626049 SCV000746669 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-08-09 criteria provided, single submitter clinical testing Two heterozygous variants of unknown significance, c.1042G>A (p.V348M) and c.1267G>T (p.G423W) were detected in the HGSNAT gene in this individual. Whole exome sequencing and Sanger confirmation showed that the father is heterozygous for the p.V348M change, and the mother is heterozygous for the p.G423W change. Our data indicate that the two changes in HGSNAT are in trans (compound heterozygous) configuration.
Invitae RCV001313340 SCV001503832 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-01-14 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 348 of the HGSNAT protein (p.Val348Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. 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. ClinVar contains an entry for this variant (Variation ID: 522867). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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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