ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) (rs148199798)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002023 SCV001159846 uncertain significance not specified 2018-08-12 criteria provided, single submitter clinical testing The HEXA c.836C>G; p.Ser279Cys variant (rs148199798), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the non-Finnish European population with an overall allele frequency of 0.02% (27/126496 alleles) in the Genome Aggregation Database. Additionally, another variant at this codon (c.835T>C, p.Ser279Pro) has been reported in a compound heterozygous state in at least one individual with Tay Sachs disease and functional studies of the variant protein show reduced transcript production and protein function (Drucker 1997). The serine at codon 279 is weakly conserved, but computational analyses (SIFT, PolyPhen-2) predict that the p.Ser279Cys variant is deleterious. Due to limited information, the clinical significance of the p.Ser279Cys variant is uncertain at this time. REFERENCES Drucker L et al. Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease. Hum Mutat. 1997;10(6):451-7. Pathogenic variants in HEXA are inherited in an autosomal recessive manner and are associated with Tay-Sachs disease and GM2-gangliosidosis (MIM: 272800).

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