ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) (rs121907966)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169417 SCV000220823 likely pathogenic Tay-Sachs disease 2014-10-21 criteria provided, single submitter literature only
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000169417 SCV000494229 pathogenic Tay-Sachs disease 2014-11-14 no assertion criteria provided research
Integrated Genetics/Laboratory Corporation of America RCV000169417 SCV000697165 pathogenic Tay-Sachs disease 2016-09-29 criteria provided, single submitter clinical testing Variant summary: The HEXA c.1495C>T (p.Arg499Cys) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent from 121370 control chromosomes, but has been reported in numerous infantile and late-onset Tay-Sachs patients. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic/likely pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000004121 SCV000024287 pathogenic Gm2-gangliosidosis, adult-onset 2003-01-01 no assertion criteria provided literature only

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