ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)

dbSNP: rs34520362
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224603 SCV000280872 pathogenic not provided 2015-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000675098 SCV000800631 uncertain significance Mucopolysaccharidosis, MPS-III-A 2017-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000675098 SCV002045099 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV000675098 SCV002285943 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-10-20 criteria provided, single submitter clinical testing 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. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SGSH protein function. ClinVar contains an entry for this variant (Variation ID: 235357). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 21204211). This variant is present in population databases (rs34520362, gnomAD 0.01%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 225 of the SGSH protein (p.Phe225Leu).
Baylor Genetics RCV000675098 SCV004201109 pathogenic Mucopolysaccharidosis, MPS-III-A 2023-07-24 criteria provided, single submitter clinical testing

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