Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201054 | SCV000255786 | likely pathogenic | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 2015-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001052813 | SCV001217041 | pathogenic | Charcot-Marie-Tooth disease, type 2 | 2019-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with glutamic acid at codon 232 of the LMNA protein (p.Gly232Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with childhood-onset muscular dystrophy (PMID: 29893365, 10939567). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 66925). This variant has been reported to affect LMNA protein function (PMID: 25982065, 23077635, 16772334, 29676528, 29753763). This variant disrupts the p.Gly232 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been observed in individuals with LMNA-related conditions (PMID: 18564364, 24349489), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Epithelial Biology; Institute of Medical Biology, |
RCV000057445 | SCV000088559 | not provided | not provided | no assertion provided | not provided |