ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)

dbSNP: rs150675340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411560 SCV000486028 likely pathogenic Tay-Sachs disease 2016-04-05 criteria provided, single submitter clinical testing
Invitae RCV000411560 SCV001229859 pathogenic Tay-Sachs disease 2021-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln237*) in the HEXA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 370659). For these reasons, this variant has been classified as Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000411560 SCV000494215 pathogenic Tay-Sachs disease 2011-09-11 no assertion criteria provided research

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