ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.437del (p.Pro146fs)

dbSNP: rs2147477659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382760 SCV001581664 pathogenic Fabry disease 2020-07-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). This variant has been observed in individual(s) with clinical features of Fabry disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro146Leufs*19) in the GLA gene. It is expected to result in an absent or disrupted protein product.

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