ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5193G>A (p.Val1731=)

gnomAD frequency: 0.00029  dbSNP: rs201458268
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698158 SCV000526805 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Invitae RCV000468267 SCV000556077 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313090 SCV000738431 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-06-26 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001698158 SCV001160466 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698158 SCV004165097 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing FLNA: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003932633 SCV004755825 likely benign FLNA-related condition 2019-06-03 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).
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001698158 SCV001930223 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001698158 SCV001973339 likely benign not provided no assertion criteria provided clinical testing

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