Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002308094 | SCV002601783 | likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 2022-03-05 | criteria provided, single submitter | clinical testing | NM_001079802.1(FKTN):c.442_443delGA(D148Rfs*9) is expected to be pathogenic in the context of FKTN-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in FKTN, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |