Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040076 | SCV001203631 | uncertain significance | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2022-08-16 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 838514). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.142_162dup, results in the insertion of 7 amino acid(s) of the FLNC protein (p.Glu48_Gly54dup), but otherwise preserves the integrity of the reading frame. |
Mayo Clinic Laboratories, |
RCV003480914 | SCV004224099 | uncertain significance | not provided | 2023-05-17 | criteria provided, single submitter | clinical testing | PM2_supporting, PM4 |