Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000313017 | SCV000338482 | uncertain significance | not provided | 2016-01-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001360530 | SCV001556455 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-03-02 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with threonine at codon 207 of the CAPN3 protein (p.Lys207Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. 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 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"). This variant has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (PMID: 16141003, 30564623, 18055493). ClinVar contains an entry for this variant (Variation ID: 285460). This variant is not present in population databases (ExAC no frequency). |
Revvity Omics, |
RCV000313017 | SCV003828990 | uncertain significance | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing |