ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=)

gnomAD frequency: 0.00009  dbSNP: rs200694807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534962 SCV000639835 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001672836 SCV001890386 likely benign not provided 2019-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395383 SCV002672954 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-28 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.
CeGaT Center for Human Genetics Tuebingen RCV001672836 SCV004165080 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7, BS2

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