ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1665G>A (p.Thr555=)

gnomAD frequency: 0.00004  dbSNP: rs782376419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873295 SCV001015261 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 RCV002390823 SCV002703333 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-25 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 RCV003438529 SCV004165121 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003438529 SCV004564419 likely benign not provided 2023-03-15 criteria provided, single submitter clinical testing

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