ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=)

gnomAD frequency: 0.00002  dbSNP: rs781843787
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865951 SCV001006981 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-08-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811520 SCV001473350 likely benign not provided 2020-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363231 SCV002662452 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-03 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.
PreventionGenetics, part of Exact Sciences RCV003948109 SCV004760396 likely benign FLNA-related condition 2020-12-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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