Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727952 | SCV000855466 | likely pathogenic | not provided | 2017-07-07 | criteria provided, single submitter | clinical testing | |
Broad Institute Rare Disease Group, |
RCV001004967 | SCV001164506 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-12-03 | criteria provided, single submitter | research | The heterozygous p.Tyr35141Ter variant in TTN was identified by our study in the compound heterozygous state, with another pathogenic variant, in one individual with limb-girdle muscular dystrophy (LGMD). The presence of this variant in combination with a pathogenic variant and in an individual with LGMD increases the likelihood that the p.Phe35721LeufsTer2 variant is pathogenic. This variant has been identified in 0.003249% (1/30782) of South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs534484592). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Loss of function of the TTN gene is an established disease mechanism in autosomal recessive LGMD. In summary, this variant meets criteria to be classified as pathogenic for LGMD in an autosomal recessive manner based on the predicted impact of the variant and the presence of a pathogenic variant in an individual with LGMD. ACMG/AMP Criteria applied: PM2, PVS1, PM3 (Richards 2015). |
MGZ Medical Genetics Center | RCV001004967 | SCV002579266 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-08-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499341 | SCV002811659 | pathogenic | 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 | 2021-08-05 | criteria provided, single submitter | clinical testing |