ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) (rs147502219)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513686 SCV000609734 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000855657 SCV000697164 uncertain significance not specified 2019-05-03 criteria provided, single submitter clinical testing Variant summary: HEXA c.1490A>G (p.Tyr497Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.4e-05 in 251466 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in HEXA causing Tay-Sachs Disease (4.4e-05 vs 0.0014), allowing no conclusion about variant significance. c.1490A>G has not, to our knowledge, been reported in the literature in affected individuals, although a clinical diagnostic laboratory has listed the variant as 'pathogenic', without any additional information to allow for an independent evaluation (Chin 2009). Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Counsyl RCV000669111 SCV000793824 uncertain significance Tay-Sachs disease 2017-11-14 criteria provided, single submitter clinical testing

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