ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)

dbSNP: rs1195940980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001359961 SCV001555851 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 180 of the HGSNAT protein (p.Ile180Met). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected 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.
Natera, Inc. RCV001836359 SCV002083285 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-08-04 no assertion criteria provided clinical testing

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