Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878550 | SCV001021473 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-01-14 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV001823749 | SCV002073458 | likely benign | not specified | 2022-01-18 | criteria provided, single submitter | clinical testing | This synonymous variant is a silent variation that is not predicted to change the amino acid sequence of the protein and has occurred in gnomAD with a total MAF of 0.0004% and with the highest MAF of 0.0009% in the European population. This variant has been reported in ClinVar (707521) NM_001458.5(FLNC):c.5670G>A (p.Gly1890=). This position is not conserved. In silico splicing algorithms predicted no impact on splicing (dbscSNV= 0.09799). The variant has not occurred in the literature in the association with the disease. Considering it is a synonymous change that does not have an apparent effect on RNA splicing machinery, the variant has been classified as Likely Benign. |
Ambry Genetics | RCV002346042 | SCV002653876 | uncertain significance | Cardiovascular phenotype | 2022-07-18 | criteria provided, single submitter | clinical testing | The c.5670G>A variant (also known as p.G1890G), located in coding exon 35 of the FLNC gene, results from a G to A substitution at nucleotide position 5670. This nucleotide substitution does not change the glycine at codon 1890. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |