ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004097 SCV000486362 likely pathogenic Tay-Sachs disease 2016-05-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000004097 SCV000697168 pathogenic Tay-Sachs disease 2016-06-09 criteria provided, single submitter clinical testing Variant summary: The HEXA c.346+1G>C variant involves the alteration of a conserved intronic nucleotide with 5/5 splice prediction tools predicting a significant impact on splicing. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), but has been reported in an affected individual with infantile Tay-Sachs disease, along with a reputable database citing the variant as "pathogenic." Therefore, the variant of interest is classified as Pathogenic.
OMIM RCV000004097 SCV000024263 pathogenic Tay-Sachs disease 1991-11-01 no assertion criteria provided literature only

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