Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221401 | SCV001393444 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2019-06-28 | criteria provided, single submitter | clinical testing | The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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. This variant disrupts the p.Asp192 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been observed in individuals with LMNA-related conditions (PMID: 16008174), which suggests that this may be a clinically significant amino acid residue. This variant has been reported to affect LMNA protein function (PMID: 16061563, 18502446, 26323789, 23029315). This variant has been observed in an individual affected with dilated cardiomyopathy (DCM) (PMID: 18502446). This sequence change replaces aspartic acid with glycine at codon 192 of the LMNA protein (p.Asp192Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. |
Epithelial Biology; Institute of Medical Biology, |
RCV000057422 | SCV000088536 | not provided | not provided | no assertion provided | not provided |