ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.118C>T (p.Pro40Ser) (rs104894831)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729403 SCV000857061 pathogenic not provided 2018-07-13 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000011466 SCV000917438 pathogenic Fabry disease 2017-09-01 criteria provided, single submitter clinical testing Variant summary: The GLA c.118C>T (p.Pro40Ser) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 87749 control chromosomes and has been reported in affected individuals in the literature who have no detectable alpha-GLA activity. Females carrying one wild-type copy and one mutant copy have been shown to have some associated mild phenotype, which may be in part due to X-chromosome inactivation (Echevarria_2015). In addition, in vitro studies also show the variant protein results in no detectable enzyme activity (Koide_1990, Lukas_2015). Taken together, this variant is classified as pathogenic.
OMIM RCV000011466 SCV000031698 pathogenic Fabry disease 1990-01-01 no assertion criteria provided literature only

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