ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7074C>T (p.Asn2358=)

gnomAD frequency: 0.00004  dbSNP: rs35390129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698493 SCV000732159 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Invitae RCV001469214 SCV001673288 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360478 SCV002661515 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-12 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.

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