ClinVar Miner

Submissions for variant NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)

gnomAD frequency: 0.00019  dbSNP: rs138058578
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190592 SCV000245618 other Tay-Sachs disease 2014-05-30 criteria provided, single submitter clinical testing pseudodeficiency
Eurofins Ntd Llc (ga) RCV000375852 SCV000331536 other not provided 2016-07-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000375852 SCV000697174 benign not provided 2016-08-11 criteria provided, single submitter clinical testing Variant summary: The HEXA c.745C>T (p.Arg249Trp) variant causes a missense change involving a conserved nucleotide with 5/5 in silico tools predicting a damaging outcome. The variant of interest was found in the large, broad control population, ExAC, with an allele frequency of 28/121408 (1/4336), which does not exceed the estimated maximal expected allele frequency for a pathogenic HEXA variant of 1/715. The variant of interest is known to be a common pseudodeficiency allele, which is not associated with neurologic disease but is associated wtih reduced degradation of the synthetic substrate when HEX A enzymatic activity is determined (Gene Reviews). Therefore, the variant of interest is classified as Benign.
Invitae RCV000190592 SCV000933533 other Tay-Sachs disease 2018-12-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000375852 SCV004698536 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing HEXA: PM2:Supporting

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