ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=)

gnomAD frequency: 0.00003  dbSNP: rs782529594
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640766 SCV000762365 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-12-10 criteria provided, single submitter clinical testing
GeneDx RCV001731832 SCV001982413 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001731832 SCV003800302 likely benign not provided 2022-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362871 SCV004056873 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-06-17 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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