ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs746776254
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Total submissions: 5
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000625930 SCV000947470 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 271 of the SGSH protein (p.Thr271Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individuals with SGSH-related conditions (PMID: 21204211, 28844463). ClinVar contains an entry for this variant (Variation ID: 522769). 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 expected to disrupt SGSH protein function. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000625930 SCV002778527 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2021-10-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000625930 SCV004201120 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000625930 SCV001463879 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2020-09-16 no assertion criteria provided clinical testing

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