ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.573del (p.Asn192fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003005073 SCV003300000 pathogenic Fabry disease 2022-01-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GLA-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn192Ilefs*48) 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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