ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.812C>T (p.Thr271Met) (rs746776254)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000625930 SCV000746519 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-12-03 criteria provided, single submitter clinical testing
Invitae RCV000625930 SCV000947470 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 271 of the SGSH protein (p.Thr271Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with SGSH-related conditions (PMID: 21204211, 28844463). ClinVar contains an entry for this variant (Variation ID: 522769). 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 C15"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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