Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002208460 | SCV002494328 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2021-07-14 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV002502029 | SCV002805144 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 | 2021-09-10 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230740 | SCV003929222 | benign | not specified | 2023-04-18 | criteria provided, single submitter | clinical testing | Variant summary: FLNC c.8118_8121delinsTATC results in a synonymous change. Two variant alleles causing the first and last nucleotide change of this variant (c.8118C>T and c.8121T>C) were each found at a frequency of ~0.015 in 151890 control chromosomes in the gnomAD 3.1 database, including 46 homozygotes, and sequence reads show that the two variants occur in the same chromosomes. This implies an allele frequency approximately 1900-fold higher than the maximum estimated frequency of a disease variant, suggesting this is likely a benign polymorphism. To our knowledge, no occurrence of c.8118_8121delinsTATC in individuals affected with Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign. |