ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) (rs112341092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587942 SCV000695733 pathogenic Fabry disease 2016-06-03 criteria provided, single submitter clinical testing Variant summary: The GLA c.1244T>C (p.Leu415Pro) 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 87692 control chromosomes but has been reported in numerous affected individuals and GLA activity has been shown to be non-responsive to various treatments both in individuals and in vitro studies. Taken together, this variant is classified as pathogenic.

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