Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001383583 | SCV001582773 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 12 of the POMT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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 0.003%). Disruption of this splice site has been observed in individual(s) with congenital muscular dystrophy (PMID: 16717220, 22323514). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS12+1G>A. ClinVar contains an entry for this variant (Variation ID: 3251). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003472967 | SCV004204044 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2023-06-03 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV002286395 | SCV000023565 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 2006-05-23 | no assertion criteria provided | literature only |