Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001873002 | SCV002144138 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343941 | SCV002646335 | uncertain significance | Cardiovascular phenotype | 2019-10-21 | criteria provided, single submitter | clinical testing | The p.T1681M variant (also known as c.5042C>T), located in coding exon 30 of the FLNC gene, results from a C to T substitution at nucleotide position 5042. The threonine at codon 1681 is replaced by methionine, an amino acid with similar properties. This variant was reported in a hypertrophic cardiomyopathy cohort; however, clinical details were limited (Gómez J et al. Circ Cardiovasc Genet, 2017 Apr;10:[Epub ahead of print]). This amino acid position is not 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. |
Prevention |
RCV003395251 | SCV004121263 | uncertain significance | FLNC-related disorder | 2022-10-17 | criteria provided, single submitter | clinical testing | The FLNC c.5042C>T variant is predicted to result in the amino acid substitution p.Thr1681Met. This variant was reported as uncertain significance in an individual with hypertrophic cardiomyopathy (Table 3, Gómez et al. 2017. PubMed ID: 28356264). This variant is reported in 0.046% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128489475-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |