ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)

gnomAD frequency: 0.00007  dbSNP: rs781844419
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004025254 SCV000739101 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-11-29 criteria provided, single submitter clinical testing The p.R1036C variant (also known as c.3106C>T), located in coding exon 20 of the FLNA gene, results from a C to T substitution at nucleotide position 3106. The arginine at codon 1036 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Centre of Medical Genetics, University of Antwerp RCV002246005 SCV002025501 uncertain significance Heterotopia, periventricular, X-linked dominant 2021-03-01 criteria provided, single submitter research PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV001868125 SCV002155067 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2025-01-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261135 SCV002541771 uncertain significance not provided 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV002261135 SCV005201448 uncertain significance not provided 2023-08-14 criteria provided, single submitter clinical testing Identified in a pediatric patient with Marfan syndrome who harbored a second variant in the FLNA gene (Meester et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35058154)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002261135 SCV005877831 uncertain significance not provided 2024-03-19 criteria provided, single submitter clinical testing The FLNA c.3106C>T; p.Arg1036Cys variant (rs781844419) is reported in the literature in an individual with suspected Marfan syndrome (Meester 2022). This variant is reported in ClinVar (Variation ID: 519885) and is found in the general population with an overall allele frequency of 0.004% (9/202,871 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.683). Due to limited information, the clinical significance of this variant is uncertain at this time. References: Meester JAN et al. Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort. Genet Med. 2022 May;24(5):1045-1053. PMID: 35058154.

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