Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kowloon West Cluster Laboratory Genetic Service, |
RCV000855733 | SCV000998852 | pathogenic | Myofibrillar myopathy | 2019-11-12 | criteria provided, single submitter | clinical testing | The variant has been observed to segregate in symptomatic individuals in seven Hong Kong Chinese families with probable founder effect. The variant is absent in gnomAD. The variant is predicted to cause a premature stop codon p.Trp2710* in the last exon. Another neighboring variant c.8130G>A is also a known pathogenic variant. |
Invitae | RCV001038999 | SCV001202505 | pathogenic | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp2710*) in the FLNC gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acid(s) of the FLNC protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with filaminopathy (PMID: 15929027, 22961544). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 694402). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this premature translational stop signal affects FLNC function (PMID: 22961544, 26472074, 26969713). For these reasons, this variant has been classified as Pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV001267920 | SCV001446430 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001267920 | SCV002023740 | pathogenic | not provided | 2020-02-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001290001 | SCV001478055 | pathogenic | Myofibrillar myopathy 5 | 2021-01-22 | no assertion criteria provided | literature only |