ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)

gnomAD frequency: 0.00019  dbSNP: rs199804244
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541793 SCV000651009 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000605853 SCV000728306 likely benign not specified 2018-03-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003991533 SCV001155267 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing FLNC: BP4, BS2
Ambry Genetics RCV002358570 SCV002621756 uncertain significance Cardiovascular phenotype 2022-04-08 criteria provided, single submitter clinical testing The p.R1313Q variant (also known as c.3938G>A), located in coding exon 22 of the FLNC gene, results from a G to A substitution at nucleotide position 3938. The arginine at codon 1313 is replaced by glutamine, an amino acid with highly similar properties. This variant was reported in a congenital heart disease exome testing cohort; however, clinical details were limited (Watkins WS et al. Nat Commun, 2019 10;10:4722). This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224329 SCV003919978 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-03-30 criteria provided, single submitter clinical testing FLNC NM_001458.4 exon 22 p.Arg1313Gln (c.3938G>A): This variant has not been reported in the literature and is present in 0.04% (51/128340) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/7-128486191-G-A). This variant is present in ClinVar (Variation ID:472052). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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