ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.735G>A (p.Trp245Ter) (rs1060500747)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723440 SCV000700378 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV000475829 SCV000543770 pathogenic Fabry disease 2016-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 245 (p.Trp245*) of the GLA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLA are known to be pathogenic. This particular variant has been reported in a family affected with Fabry disease with clinical manifestations similar to hypertrophic cardiomyopathy and segregates with the condition (PMID: 16626582). In addition, a different nucleotide change c.734G>A causing the same p.Trp245* change on the protein has been reported in an individual affected with classic Fabry disease (PMID: 12428061). For these reasons, this variant has been classified as Pathogenic.

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