ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)

gnomAD frequency: 0.00009  dbSNP: rs769542268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000797090 SCV000936630 uncertain significance Mucopolysaccharidosis type 6 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 420 of the ARSB protein (p.Pro420Ala). This variant is present in population databases (rs769542268, gnomAD 0.02%). 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: 643401). 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 not expected to disrupt ARSB 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.
Ambry Genetics RCV003166148 SCV003875714 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.1258C>G (p.P420A) alteration is located in exon 7 (coding exon 7) of the ARSB gene. This alteration results from a C to G substitution at nucleotide position 1258, causing the proline (P) at amino acid position 420 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000797090 SCV001457623 uncertain significance Mucopolysaccharidosis type 6 2020-09-16 no assertion criteria provided clinical testing

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