ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1183del (p.Asp395fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001174718 SCV001337992 likely pathogenic Tay-Sachs disease 2020-01-29 criteria provided, single submitter clinical testing Variant summary: HEXA c.1183delG (p.Asp395IlefsX4) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251482 control chromosomes (gnomAD). c.1183delG has been reported in the literature in an individual who was undergoing a Tay-Sachs carrier screening program (Tomczak_1994). This report does not provide unequivocal conclusions about association of the variant with Tay-Sachs Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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 likely pathogenic.

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