ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.169C>T (p.Gln57Ter)

dbSNP: rs869312259
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194305 SCV001363730 pathogenic Fabry disease 2021-03-23 criteria provided, single submitter clinical testing Variant summary: GLA c.169C>T (p.Gln57X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 183298 control chromosomes. c.169C>T has been reported in the literature in individuals affected with Fabry Disease (example, Duro_2018, Mauhin_2018, Mauhin_2020, Balendran_2020). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001194305 SCV004633020 pathogenic Fabry disease 2023-03-18 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: 222188). This premature translational stop signal has been observed in individual(s) with Fabry disease (PMID: 30477121, 31860127). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln57*) 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).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596111 SCV005089852 pathogenic not provided 2024-07-31 criteria provided, single submitter clinical testing

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