ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1794G>A (p.Val598=)

gnomAD frequency: 0.00001  dbSNP: rs368304859
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704500 SCV000532149 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313119 SCV000739084 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-03-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063478 SCV002416453 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704500 SCV004165119 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7

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