Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV003468199 | SCV004197426 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2023-05-31 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004526987 | SCV005039209 | uncertain significance | not specified | 2024-03-22 | criteria provided, single submitter | clinical testing | Variant summary: FKRP c.1210C>T (p.Arg404Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The frequency data for this variant in gnomAD (v2.1 dataset) is considered unreliable, as metrics indicate poor data quality at this position. The variant, c.1210C>T, has been reported in the literature in a compound heterozygous individual affected with Limb-Girdle Muscular Dystrophy, who carried a 2nd pathogenic variant (Mercuri_2006, Sframeli_2017, Manzini_2008). 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. The following publications have been ascertained in the context of this evaluation (PMID: 16476814, 28688748, 18752264). ClinVar contains an entry for this variant (Variation ID: 2675700). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Fulgent Genetics, |
RCV005030039 | SCV005647993 | likely pathogenic | Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2024-03-26 | criteria provided, single submitter | clinical testing |