ClinVar Miner

Submissions for variant NM_000487.6(ARSA):c.684+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090367 SCV001245876 pathogenic not provided 2019-12-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174677 SCV001337910 pathogenic Metachromatic leukodystrophy 2020-01-10 criteria provided, single submitter clinical testing Variant summary: ARSA c.684+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a canonical 5' splicing donor site. At least one publication reports experimental evidence that this variant affects mRNA splicing (Barth_1995). The variant allele was found at a frequency of 1.2e-05 in 250698 control chromosomes. c.684+1G>A has been reported in the literature with alternate names (as 678+1G>A and IVS2+1G>A or the I allele) in multiple individuals affected with Metachromatic Leukodystrophy (example, Barth_1995, and Coulter-Mackie_2003). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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