ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.564del (p.Leu189fs)

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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 RCV003622157 SCV004536065 pathogenic Fabry disease 2023-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Fabry disease (PMID: 30988410). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu189Trpfs*3) in 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 (PMID: 10666480, 12175777).

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