ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)

gnomAD frequency: 0.00023  dbSNP: rs137853319
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313705 SCV000739075 benign Familial thoracic aortic aneurysm and aortic dissection 2017-12-11 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000869767 SCV001011222 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001549941 SCV001770184 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16299064, 28133863, 23873601, 25167861, 17632775, 23871722)
CeGaT Center for Human Genetics Tuebingen RCV001549941 SCV004165104 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FLNA: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003924824 SCV004739830 likely benign FLNA-related condition 2022-02-12 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).
OMIM RCV000012541 SCV000032775 pathogenic FG syndrome 2 2007-08-15 no assertion criteria provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001549941 SCV001928860 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001549941 SCV001974108 likely benign not provided no assertion criteria provided clinical testing

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