Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV003152678 | SCV003841707 | likely pathogenic | Dilated cardiomyopathy 1A | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.91; 3Cnet: 0.95). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with LMNA related disorder (PMID: 16008174). A different missense change at the same codon (p.Asp192Gly) has been reported to be associated with LMNA related disorder (PMID: 16061563). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Epithelial Biology; Institute of Medical Biology, |
RCV000057423 | SCV000088537 | not provided | not provided | no assertion provided | not provided |