ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) (rs374524755)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000505693 SCV000599895 likely benign Tay-Sachs disease 2017-08-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000781461 SCV000885566 likely benign not specified 2018-10-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781461 SCV000919498 likely benign not specified 2017-09-05 criteria provided, single submitter clinical testing Variant summary: The HEXA c.8G>C (p.Ser3Thr) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 119/276096 control chromosomes from all ethnicities, but was observed predominantly in the Ashkenazi Jewish subpopulation at a frequency of 0.005727 (58/10128). This frequency is about 4 times the estimated maximal expected allele frequency of a pathogenic HEXA variant (0.0013975), suggesting this is likely a benign polymorphism found primarily in populations of Ashkenazi Jewish origin. A publication identified the variant in 3 individuals (likely Ashkenazi Jewish) who underwent carrier screening for common Ashkenazi Jewish disorders. Enzymatic analysis was performed on all VUS findings, which determined that these individuals were not carriers of Tay-Sachs disease (Arjunan_2016). Taken together, this variant is classified as likely benign.
Invitae RCV000757370 SCV001129788 likely benign not provided 2018-10-25 criteria provided, single submitter clinical testing

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