Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669472 | SCV000794229 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2017-09-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868232 | SCV002290521 | pathogenic | Walker-Warburg congenital muscular dystrophy | 2023-12-20 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 338 of the FKRP protein (p.Val338Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with congenital muscular dystrophy and/or limb girdle muscular dystrophy (PMID: 20623375, 27671536, 33051673). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553930). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FKRP protein function. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003488793 | SCV004238188 | likely pathogenic | not provided | 2023-02-20 | criteria provided, single submitter | clinical testing |