ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.2313G>A (p.Lys771=)

gnomAD frequency: 0.00008  dbSNP: rs782741007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002533250 SCV000762376 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-10-03 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659659 SCV000781502 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449007 SCV002734946 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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