Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001060654 | SCV001225358 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429687 | SCV002741304 | uncertain significance | Cardiovascular phenotype | 2023-11-01 | criteria provided, single submitter | clinical testing | The p.T891M variant (also known as c.2672C>T), located in coding exon 18 of the FLNC gene, results from a C to T substitution at nucleotide position 2672. The threonine at codon 891 is replaced by methionine, an amino acid with similar properties. This variant has been detected in an individual from a hypertrophic cardiomyopathy cohort who was indicated as having another causative variant detected; however, details were limited (Cui H et al. Mol Genet Genomic Med, 2018 11;6:1104-1113). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003145319 | SCV003833142 | uncertain significance | not provided | 2021-11-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003393829 | SCV004120247 | uncertain significance | FLNC-related disorder | 2023-04-18 | criteria provided, single submitter | clinical testing | The FLNC c.2672C>T variant is predicted to result in the amino acid substitution p.Thr891Met. This variant was reported in an individual with hypertrophic cardiomyopathy; however, this individual also harbored an additional variant that was not described in details (Table 1, Cui et al. 2018. PubMed ID: 30411535). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128483492-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |