ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=)

gnomAD frequency: 0.00009  dbSNP: rs182894587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554561 SCV000639808 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-11-10 criteria provided, single submitter clinical testing
GeneDx RCV001697026 SCV000732819 likely benign not provided 2020-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314984 SCV000739066 benign Familial thoracic aortic aneurysm and aortic dissection 2016-07-28 criteria provided, single submitter clinical testing This alteration is classified as 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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