ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) (rs121907970)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242608 SCV000304643 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000279029 SCV000331537 other not provided 2016-04-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000279029 SCV000493276 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000549043 SCV000629536 other Tay-Sachs disease 2017-05-08 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000279029 SCV000697173 benign not provided 2016-02-02 criteria provided, single submitter clinical testing Variant summary: The c.739C>T in HEXA gene is a missense variant that involves a non-conserved nucleotide and 5/5 in silico tools predict deleterious outcome. The variant was found to cause a pseudodeficiency and redused HEX A enzymatic activity toward synthetic substrates but did not reduce enzymatic activity with the natural substrate, GM2 ganglioside. The variant is present in the broad control population dataset of ExAC at a frequency (0.16%), predominantly in individuals of European descent (0.28%). About 35% of non-Jewish individuals identified as heterozygotes by HEX A enzyme-based testing are carriers of a pseudodeficiency allele. About 2% of Jewish individuals identified as heterozygotes by HEX A enzyme-based testing in carrier screening programs are actually heterozygous for the variant of interest. c.739C>T is widely accepted in the field as benign pseudodeficient allele. Taking together, the variant has been scored as Benign.
OMIM RCV000004128 SCV000024294 pathogenic Beta-hexosaminidase a, pseudodeficiency of 1993-08-01 no assertion criteria provided literature only

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