ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002509883 SCV002817427 uncertain significance Mucopolysaccharidosis type 6 2022-12-24 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 7 of ARSB gene that results in amino acid substitution of Proline for Alanine at codon 431 was detected. The observed variant c.1291G>C (p.Ala431Pro) has not been reported in the 1000 genomes and gnomAD databases. The in-silico predictions for the variant is disease causing by MutationTaster2, SIFT and PROVEAN. In summary, the variant is of uncertain significance.

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