ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4245C>A (p.Ile1415=)

gnomAD frequency: 0.00002  dbSNP: rs782496836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001456809 SCV001660597 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327609 SCV002628656 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-07-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003898251 SCV004713841 likely benign FLNA-related condition 2022-01-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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