ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)

gnomAD frequency: 0.00001  dbSNP: rs1453217230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231340 SCV001403860 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 473 of the SGSH protein (p.Trp473Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of SGSH-related conditions (Invitae). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
GeneDx RCV001760232 SCV001990915 uncertain significance not provided 2019-02-12 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001231340 SCV002045123 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing

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