ClinVar Miner

Submissions for variant NM_000520.5(HEXA):c.-207-2357_253+5128delinsG

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004095 SCV000677974 likely pathogenic Tay-Sachs disease 2016-02-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000004095 SCV000697167 pathogenic Tay-Sachs disease 2016-01-22 criteria provided, single submitter clinical testing Variant summary: Variant is a large deletion which includes the promoter region of HEXA and the first exon. It is known as the most common allele associated with TSD in Quebec (GeneReviews) and was first described in 2 French Canadian patients by Myerowitz_1986. Later, Hechtman_1990 reported several TSD patients (8 homozygotes and 3 compound heterozygotes) indicating a disease causing impact. Furthermore, a reputable database cites the variant as Pathogenic. Therefore, the variant of interest has been classified as Pathogenic.
OMIM RCV000004095 SCV000024261 pathogenic Tay-Sachs disease 1992-04-01 no assertion criteria provided literature only

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