Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000230911 | SCV000286777 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-02-07 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with serine at codon 21334 of the TTN protein (p.Asn21334Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs753121509, ExAC 0.01%) but has not been reported in the literature in individuals with a TTN-related disease. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. However, algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this missense variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare missense change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV002487061 | SCV002775105 | 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 | 2021-11-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003235154 | SCV003934173 | uncertain significance | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing |