ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys)

gnomAD frequency: 0.00003  dbSNP: rs745804096
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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 RCV002036004 SCV002293756 uncertain significance Mucopolysaccharidosis type 6 2022-03-26 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 235 of the ARSB protein (p.Tyr235Cys). This variant is present in population databases (rs745804096, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ARSB-related conditions. 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 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 RCV002548108 SCV003549223 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.704A>G (p.Y235C) alteration is located in exon 4 (coding exon 4) of the ARSB gene. This alteration results from a A to G substitution at nucleotide position 704, causing the tyrosine (Y) at amino acid position 235 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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