ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1146+18A>G

dbSNP: rs1555472543
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669027 SCV000793723 uncertain significance Tay-Sachs disease 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669027 SCV001017051 likely benign Tay-Sachs disease 2022-09-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811437 SCV002049721 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing The HEXA c.1146+18A>G variant (rs1555472543) is reported in the literature in the heterozygous state in individuals with enzyme levels consistent with carrier status for Tay-Sachs disease (Martin 2007, Triggs-Raine 1995). This variant is also reported in ClinVar (Variation ID: 553551), but is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This is an intronic variant in a weakly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant does not alter splicing. However, given the lack of clinical and functional data, the significance of the c.1146+18A>G variant is uncertain at this time. References: Martin DC et al. Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England. Clin Chem. 2007 Mar;53(3):392-8. Triggs-Raine B et al. Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England. Am J Hum Genet. 1995 Apr;56(4):870-9.

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