Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002002477 | SCV002231238 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2021-11-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with peripartum cardiomyopathy (PMID: 33874732). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp185*) in the FLNC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FLNC are known to be pathogenic (PMID: 27908349). |
Ambry Genetics | RCV002344117 | SCV002654065 | pathogenic | Cardiovascular phenotype | 2019-09-11 | criteria provided, single submitter | clinical testing | The p.W185* pathogenic mutation (also known as c.555G>A), located in coding exon 2 of the FLNC gene, results from a G to A substitution at nucleotide position 555. This changes the amino acid from a tryptophan to a stop codon within coding exon 2. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |