ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)

gnomAD frequency: 0.00001  dbSNP: rs797045581
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193289 SCV000247404 uncertain significance not specified 2015-04-09 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660360 SCV000782430 uncertain significance Heterotopia, periventricular, X-linked dominant 2016-02-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764861 SCV000896017 uncertain significance Cardiac valvular dysplasia, X-linked; FG syndrome 2; Heterotopia, periventricular, X-linked dominant; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; Melnick-Needles syndrome; Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II; Terminal osseous dysplasia-pigmentary defects syndrome; Frontometaphyseal dysplasia 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000806824 SCV000946843 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV001843491 SCV002102687 likely benign not provided 2022-03-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 211024; ClinVar); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV004020317 SCV003723206 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-16 criteria provided, single submitter clinical testing The c.6695A>G (p.K2232R) alteration is located in exon 40 (coding exon 39) of the FLNA gene. This alteration results from a A to G substitution at nucleotide position 6695, causing the lysine (K) at amino acid position 2232 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.