ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.582del (p.Trp195fs)

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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 RCV001420189 SCV001622392 pathogenic Metachromatic leukodystrophy 2021-04-20 criteria provided, single submitter clinical testing A homozygous single base pair deletion in exon 4 of the ARSA gene that results in a frameshift and premature truncation of the protein 5 amino acids downstream to codon 195 was detected. The variant c.582del (p.Trp195Glyfs*5) has not been reported in 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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