ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.346+1G>A (rs797044432)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672344 SCV000797441 pathogenic Tay-Sachs disease 2018-01-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000672344 SCV001339061 pathogenic Tay-Sachs disease 2020-03-19 criteria provided, single submitter clinical testing Variant summary: HEXA c.346+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 5 splicing donor site. At least one publication reports experimental evidence that this variant affects skipping of exon 2 (Akli_1991). The variant was absent in 251296 control chromosomes (gnomAD). c.346+1G>A has been reported in the literature in individuals (both compound heterozygous and homozygous) affected with Tay-Sachs Disease (Akli_1991, Dastsooz_2018). These data indicate that the variant may be associated with disease. One ClinVar submitter (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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