ClinVar Miner

Submissions for variant NM_002016.2(FLG):c.5840G>A (p.Trp1947Ter)

gnomAD frequency: 0.00048  dbSNP: rs560912365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001590217 SCV001825991 pathogenic not provided 2021-10-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 2115 amino acids are lost, and other loss-of-function variants have been reported downstream (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 25997159)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001590217 SCV002035564 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001590217 SCV002038269 likely benign not provided no assertion criteria provided clinical testing

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