ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.235G>T (p.Glu79Ter)

dbSNP: rs730880443
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733596 SCV000861681 pathogenic not provided 2018-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516375 SCV003445311 pathogenic Fabry disease 2022-07-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 180834). This premature translational stop signal has been observed in individual(s) with Fabry disease (PMID: 9105656). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu79*) 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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