Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002480871 | SCV002787705 | 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 | 2021-08-31 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001254952 | SCV001431034 | uncertain significance | not provided | 2020-02-05 | no assertion criteria provided | clinical testing | The c.17376T>G (p.Ile5792Met) variant substitutes an Isoleucine for Methionine at amino acid 5792/35992 (coding exon 59/363) in the transcript NM_001267550.2.It is also called c.16425T>G (p.Ile5475Met) in the alternative TTN transcript NM_001256850.1. The p.Ile5792 residue is completely conserved in mammals. This variant is found with low frequency in gnomAD (2 heterozygotes, 0 homozygotes; allele frequency: 8.04e-6). In silico algorithms predict this variant to be Neutral (Provean; score: -1.70) and Tolerated (SIFT; score: 0.054) to the function of the protein. This variant is absent from ClinVar, although a different amino acid change at the same amino acid is reported as a Variant of Uncertain Significance (p.Ile5792Thr; VarID:535724). To our current knowledge this variant has not been reported in affected individuals in the literature. |