Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696812 | SCV000825391 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001585638 | SCV001812673 | likely benign | not provided | 2020-10-27 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 574790; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Ambry Genetics | RCV002388272 | SCV002668931 | uncertain significance | Cardiovascular phenotype | 2022-07-13 | criteria provided, single submitter | clinical testing | The p.S2500N variant (also known as c.7499G>A), located in coding exon 45 of the FLNC gene, results from a G to A substitution at nucleotide position 7499. The serine at codon 2500 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV001585638 | SCV003833082 | uncertain significance | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001585638 | SCV004563766 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | The FLNC c.7499G>A; p.Ser2500Asn variant (rs371244800), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 574790). This variant is found in the African population with an allele frequency of 0.09% (21/24,198 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.421). Due to limited information, the clinical significance of this variant is uncertain at this time. |