ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter)

dbSNP: rs786205182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170403 SCV000222828 likely pathogenic Heterotopia, periventricular, X-linked dominant 2011-12-12 criteria provided, single submitter clinical testing
GeneDx RCV002221507 SCV002498922 likely pathogenic not provided 2022-04-06 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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