Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000659128 | SCV000780942 | likely pathogenic | not provided | 2018-02-28 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV004554817 | SCV005044072 | likely 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 | 2023-02-09 | criteria provided, single submitter | clinical testing | The inherited c.1552_1569delinsTGACGTCCTGCTGACG, p.(Leu518Ter) variant (annotation based on MANE Select transcript NM_001077365.2) identified in the POMT1 gene is the deletion of 18 nucleotides and the insertion of 16 nucleotides (TGACGTCCTGCTGACG) at amino acids 518-523/726 (exon 16/20). This variant is predicted to lead to a nonsense codon and premature termination of the protein at amino acid 518/726 (exon 16/20), and is expected to lead to the loss of protein function via nonsense mediated decay. This variant is absent from population databases (gnomADv2.1.1, gnomADv3.1.2, BRAVO-TOPMed, All of Us) suggesting it is not a common benign variant in the populations represented in those databases. The c.1552_1569delinsTGACGTCCTGCTGACG, p.(Leu518Ter) variant is reported in ClinVar as Likely Pathogenic (VarID:547054; 1 star, single submission) and to our current knowledge has not been reported in affected individuals in the literature. Given its predicted deleterious nature and absence in population databases, the inherited c.1552_1569delinsTGACGTCCTGCTGACG, p.(Leu518Ter) variant identified in the POMT1 gene is reported as Likely Pathogenic. |