Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000552795 | SCV000643393 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-03-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002483438 | SCV002788343 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-10-15 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003139806 | SCV003819049 | uncertain significance | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004701626 | SCV005202523 | uncertain significance | not specified | 2024-07-12 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.48611C>T (p.Thr16204Ile) results in a non-conservative amino acid change located in the A band region of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.4e-06 in 237586 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.48611C>T in individuals affected with Limb-Girdle Muscular Dystrophy, Type 2J and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 467286). Based on the evidence outlined above, the variant was classified as uncertain significance. |