Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729516 | SCV000857186 | pathogenic | not provided | 2017-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000799994 | SCV000939689 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu421Glufs*12) in the POMT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POMT1 are known to be pathogenic (PMID: 12369018, 15637732, 16575835). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individuals with Walker-Warburg syndrome (PMID: 17559086, 18752264). ClinVar contains an entry for this variant (Variation ID: 594265). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000729516 | SCV002019494 | pathogenic | not provided | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485867 | SCV002795379 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2022-04-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003472262 | SCV004204042 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2023-06-20 | criteria provided, single submitter | clinical testing |