ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.6683G>A (p.Arg2228Gln)

gnomAD frequency: 0.00001  dbSNP: rs765438770
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649167 SCV000770992 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV002291682 SCV002584467 uncertain significance not provided 2022-04-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002360625 SCV002663992 uncertain significance Cardiovascular phenotype 2023-07-05 criteria provided, single submitter clinical testing The c.6683G>A (p.R2228Q) alteration is located in exon 40 (coding exon 40) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 6683, causing the arginine (R) at amino acid position 2228 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003403496 SCV004105344 uncertain significance FLNC-related disorder 2022-08-26 criteria provided, single submitter clinical testing The FLNC c.6683G>A variant is predicted to result in the amino acid substitution p.Arg2228Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128494226-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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