ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054141 SCV001218440 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces serine with tyrosine at codon 109 of the HGSNAT protein (p.Ser109Tyr). The serine residue is weakly conserved and there is a large physicochemical difference between serine and tyrosine. This variant is present in population databases (rs768887468, ExAC 0.03%). This variant has not been reported in the literature in individuals with HGSNAT-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. RCV001275625 SCV001460909 uncertain significance Mucopolysaccharidosis, MPS-III-C 2020-02-13 no assertion criteria provided clinical testing

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