Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000649167 | SCV000770992 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002291682 | SCV002584467 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV002360625 | SCV002663992 | uncertain significance | Cardiovascular phenotype | 2023-07-05 | criteria provided, single submitter | clinical testing | The c.6683G>A (p.R2228Q) alteration is located in exon 40 (coding exon 40) of the FLNC gene. This alteration results from a G to A substitution at nucleotide position 6683, causing the arginine (R) at amino acid position 2228 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003403496 | SCV004105344 | uncertain significance | FLNC-related disorder | 2022-08-26 | criteria provided, single submitter | clinical testing | The FLNC c.6683G>A variant is predicted to result in the amino acid substitution p.Arg2228Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128494226-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |