Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV003476406 | SCV004199723 | likely pathogenic | Dilated cardiomyopathy 1X | 2024-03-17 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004690413 | SCV005185304 | uncertain significance | not specified | 2024-05-09 | criteria provided, single submitter | clinical testing | Variant summary: FKTN c.49A>C (p.Ser17Arg) results in a non-conservative amino acid change located in the Ribitol-5-phosphate transferase FKTN, N-terminal domain (IPR045587) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251366 control chromosomes. c.49A>C has been reported in the literature in the compound heterozygous state in individuals affected with Congenital Muscular Dystrophy (e.g. Ko_2023, Song_2021, Cha_2017). These data indicate that the variant may be associated with disease. 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: 37087885, 33200426). ClinVar contains an entry for this variant (Variation ID: 2675716). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic. |
| Fulgent Genetics, |
RCV005047596 | SCV005679617 | likely pathogenic | Dilated cardiomyopathy 1X; 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 | 2024-05-10 | criteria provided, single submitter | clinical testing |