ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.32del (p.Gly11fs)

dbSNP: rs869312278
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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 RCV003041472 SCV003445178 pathogenic Fabry disease 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.30delG. This premature translational stop signal has been observed in individual(s) with Fabry disease (PMID: 10360396). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly11Alafs*110) 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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