Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000620747 | SCV000736784 | uncertain significance | Cardiovascular phenotype | 2017-02-17 | criteria provided, single submitter | clinical testing | The p.P12302Q variant (also known as c.36905C>A), located in coding exon 135 of the TTN gene, results from a C to A substitution at nucleotide position 36905. The proline at codon 12302 is replaced by glutamine, 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004701706 | SCV005203837 | uncertain significance | not specified | 2024-07-02 | criteria provided, single submitter | clinical testing | Variant summary: TTN c.56396C>A (p.Pro18799Gln) results in a non-conservative amino acid change located in the A-band domain of the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 244076 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.56396C>A 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: 518986). Based on the evidence outlined above, the variant was classified as uncertain significance. |