Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000339961 | SCV000332818 | uncertain significance | not provided | 2015-07-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000697301 | SCV000825901 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2022-03-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 281821). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 375 of the LMNA protein (p.Ala375Asp). |