ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=)

gnomAD frequency: 0.01349  dbSNP: rs74667788
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117061 SCV000151202 benign not specified 2013-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000117061 SCV000250357 benign not specified 2014-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV004019639 SCV000319378 benign Familial thoracic aortic aneurysm and aortic dissection 2015-02-03 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000756176 SCV000556037 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-02-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811968 SCV000883903 benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000117061 SCV004029216 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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