ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)

gnomAD frequency: 0.00002  dbSNP: rs782240483
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499997 SCV000594823 uncertain significance not specified 2016-08-30 criteria provided, single submitter clinical testing
Invitae RCV002231175 SCV000942706 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-13 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196653 SCV001367273 uncertain significance Cardiac valvular dysplasia, X-linked 2019-09-09 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
GeneDx RCV001764485 SCV001988629 uncertain significance not provided 2019-07-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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