Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000536046 | SCV000651040 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-04 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002491079 | SCV002784621 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-09-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003159896 | SCV003859327 | uncertain significance | Cardiovascular phenotype | 2022-12-27 | criteria provided, single submitter | clinical testing | The p.A1569T variant (also known as c.4705G>A), located in coding exon 27 of the FLNC gene, results from a G to A substitution at nucleotide position 4705. The alanine at codon 1569 is replaced by threonine, an amino acid with similar properties. This variant co-occurred with variants in other genes in a case from a limb-girdle muscular dystrophy cohort (Fichna JP et al. Hum Genomics, 2018 Jul;12:34). 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. |