ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.640-814T>C

dbSNP: rs1603040008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788404 SCV000927498 uncertain significance not provided 2017-12-20 criteria provided, single submitter clinical testing
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University RCV003238213 SCV003935996 likely pathogenic Fabry disease 2023-06-15 criteria provided, single submitter clinical testing The c.640-814T>C variant in GLA has not been reproted and was absent from large population studies. In our case, both the proband and his two daughters carried the pathogenic variant.Evidence of pedigree co-segregation suggests that the variant is highly likely to be pathogenic.

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