ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)

gnomAD frequency: 0.00001  dbSNP: rs781984274
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500138 SCV000594812 uncertain significance not specified 2016-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002230984 SCV000813043 benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764860 SCV000896016 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
Ambry Genetics RCV002367688 SCV002666725 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-03-30 criteria provided, single submitter clinical testing The p.R2234Q variant (also known as c.6701G>A), located in coding exon 39 of the FLNA gene, results from a G to A substitution at nucleotide position 6701. The arginine at codon 2234 is replaced by glutamine, an amino acid with highly similar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.002% (3/178731) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.01% (2/13480) of East Asian alleles. 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.

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