ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)

gnomAD frequency: 0.00009  dbSNP: rs781823700
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516195 SCV000613332 uncertain significance not specified 2016-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314899 SCV000739081 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-21 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.
Invitae RCV002231200 SCV000949937 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508977 SCV001715433 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
GeneDx RCV001508977 SCV001779801 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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