ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)

gnomAD frequency: 0.00002  dbSNP: rs780239925
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672190 SCV000797270 uncertain significance Mucopolysaccharidosis, MPS-III-A 2018-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000672190 SCV002045150 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV000672190 SCV002259738 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-01-05 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 347 of the SGSH protein (p.Ser347Phe). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ser347 amino acid residue in SGSH. Other variant(s) that disrupt this residue have been observed in individuals with SGSH-related conditions (PMID: 12438493, 21061399), which suggests that this may be a clinically significant amino acid residue. 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. ClinVar contains an entry for this variant (Variation ID: 556217). This variant is also known as c.1052C>T. This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 12438493; Kim B et al. 2015. J. Korean Soc. Inherit Metab Dis. 15:44). This variant is present in population databases (rs780239925, gnomAD 0.03%).
Baylor Genetics RCV000672190 SCV004201115 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-06-21 criteria provided, single submitter clinical testing

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