Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643525 | SCV000765212 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-09-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422317 | SCV002728948 | uncertain significance | Cardiovascular phenotype | 2020-02-25 | criteria provided, single submitter | clinical testing | The p.G6837E variant (also known as c.20510G>A), located in coding exon 81 of the TTN gene, results from a G to A substitution at nucleotide position 20510. The glycine at codon 6837 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002483851 | SCV002782869 | 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 | 2021-10-25 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003140007 | SCV003821170 | uncertain significance | not provided | 2019-09-17 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003994060 | SCV004813379 | uncertain significance | not specified | 2024-02-05 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.40001G>A (p.Gly13334Glu) 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 1.4e-05 in 216416 control chromosomes (gnomAD). 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.40001G>A in individuals affected with Dilated Cardiomyopathy or other TTN-related disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 535505). Based on the evidence outlined above, the variant was classified as uncertain significance. |