Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000319023 | SCV000337595 | uncertain significance | not provided | 2015-11-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855145 | SCV002136642 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-06-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 614 of the CAPN3 protein (p.Glu614Gly). This variant is present in population databases (rs111525622, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 19556129). ClinVar contains an entry for this variant (Variation ID: 284814). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |