ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) (rs371677498)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079693 SCV000111576 uncertain significance not provided 2013-03-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764863 SCV000896019 uncertain significance Cardiac valvular dysplasia, X-linked; FG syndrome 2; Periventricular nodular heterotopia 1; 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; Frontometaphyseal dysplasia 1 2018-10-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001353 SCV001158548 uncertain significance not specified 2019-07-01 criteria provided, single submitter clinical testing The FLNA c.3323G>A; p.Cys1108Tyr variant (rs371677498), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 93756). This variant is found in the general population with an overall allele frequency of 00.0025% (5/202552 alleles, including 3 hemizygotes) in the Genome Aggregation Database. The cysteine at codon 1108 is highly conserved, but computational analyses (SIFT: tolerated, PolyPhen-2: probably damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Cys1108Tyr variant is uncertain at this time.

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.