ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)

dbSNP: rs2041599125
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296926 SCV001485904 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-09-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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: 1000753). This missense change has been observed in individual(s) with clinical features of mucopolysaccharidosis IIIA (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 468 of the SGSH protein (p.Leu468Pro).
Genome-Nilou Lab RCV001296926 SCV002045125 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing

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