ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.303C>A (p.Phe101Leu)

dbSNP: rs150482611
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942251 SCV002232058 pathogenic Mucopolysaccharidosis, MPS-III-A 2022-11-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1455207). A different variant (c.301T>C) giving rise to the same protein effect has been determined to be pathogenic (Invitae). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 101 of the SGSH protein (p.Phe101Leu). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Phe101 amino acid residue in SGSH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28283807). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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