ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)

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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 RCV003318425 SCV004021943 pathogenic Metachromatic leukodystrophy 2023-07-27 criteria provided, single submitter clinical testing A Homozygous variation in exon 2 of the ARSA gene that results in the amino acid substitution of Threonine for Lysine at codon 125 was detected. The observed variant c.374A>C (p.Lys125Thr) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is disease causing by MutationTaster, SIFT, PolyPhen-2, CADD and DANN. In summary, the variant meets our criteria to be classified as pathogenic.

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