ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)

dbSNP: rs553837106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001305027 SCV001494339 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 157 of the HGSNAT protein (p.Glu157Lys). This variant is present in population databases (rs553837106, gnomAD 0.003%). 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: 1007789). 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. RCV001835475 SCV002083282 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-11-02 no assertion criteria provided clinical testing

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