ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)

dbSNP: rs773446161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000416452 SCV000797576 likely pathogenic Tay-Sachs disease 2018-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000416452 SCV002500548 likely pathogenic Tay-Sachs disease 2022-03-21 criteria provided, single submitter clinical testing Variant summary: HEXA c.316C>T (p.Gln106X) 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 251378 control chromosomes (gnomAD). c.316C>T has been reported in the literature in at least one individual affected with Tay-Sachs Disease (Mistri_2019) and one obligate carrier (Akerman_1997). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submitters have assessed the variant since 2014: both classified the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000416452 SCV000494203 pathogenic Tay-Sachs disease 2014-06-17 no assertion criteria provided research
PerkinElmer Genomics RCV000416452 SCV002023466 likely pathogenic Tay-Sachs disease 2021-11-01 no assertion criteria provided clinical testing

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