Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555744 | SCV000651156 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377140 | SCV002671868 | uncertain significance | Cardiovascular phenotype | 2022-03-17 | criteria provided, single submitter | clinical testing | The p.R2410H variant (also known as c.7229G>A), located in coding exon 43 of the FLNC gene, results from a G to A substitution at nucleotide position 7229. The arginine at codon 2410 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly 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. |
Revvity Omics, |
RCV003144358 | SCV003833100 | uncertain significance | not provided | 2019-05-22 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV003224331 | SCV003919983 | 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 43 p.Arg2410His (c.7229G>A): This variant has not been reported in the literature and is present in 0.01% (4/24180) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/7-128495346-G-A). This variant is present in ClinVar (Variation ID:472164). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |