ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)

gnomAD frequency: 0.00008  dbSNP: rs782684339
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510875 SCV001718025 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000471999 SCV001940201 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402316 SCV002705931 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-19 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.
Fulgent Genetics, Fulgent Genetics RCV002496798 SCV002807075 likely benign Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 2021-07-02 criteria provided, single submitter clinical testing

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