ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.29C>T (p.Pro10Leu)

gnomAD frequency: 0.00003  dbSNP: rs757310157
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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 RCV002042377 SCV002294156 uncertain significance Mucopolysaccharidosis type 6 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 10 of the ARSB protein (p.Pro10Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1499576). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252749 SCV002523328 uncertain significance See cases 2019-11-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4

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