Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000175198 | SCV000226642 | pathogenic | not provided | 2015-05-05 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002516666 | SCV003473797 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2023-04-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 194757). This premature translational stop signal has been observed in individual(s) with Walker-Warburg syndrome (PMID: 24491487). This variant is present in population databases (rs794727190, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Leu575Trpfs*23) 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). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003230434 | SCV003928333 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy | 2023-04-04 | criteria provided, single submitter | clinical testing | Variant summary: POMT1 c.1723delC (p.Leu575TrpfsX23) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in ClinVar. The variant allele was found at a frequency of 4e-06 in 250918 control chromosomes (gnomAD). c.1723delC has been reported in the literature in an individual affected with Walker-Warburg syndrome (example: Wallace_2014). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV004567379 | SCV005052423 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2023-11-20 | criteria provided, single submitter | clinical testing |