Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595690 | SCV000700924 | uncertain significance | not provided | 2016-10-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532362 | SCV003459936 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 121 of the CAPN3 protein (p.Ile121Met). This variant is present in population databases (no rsID available, gnomAD 0.01%). This missense change has been observed in individual(s) with CAPN3-related conditions (PMID: 32528171). ClinVar contains an entry for this variant (Variation ID: 496977). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |