Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000712371 | SCV000842848 | uncertain significance | not provided | 2024-06-19 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease. Polyphen and MutationTaster yielded discordant predictions regarding whether this amino acid change is damaging to the protein. |
| Ambry Genetics | RCV004649295 | SCV005144248 | uncertain significance | Cardiovascular phenotype | 2024-03-22 | criteria provided, single submitter | clinical testing | The p.P2T variant (also known as c.4C>A), located in coding exon 1 of the MYBPC3 gene, results from a C to A substitution at nucleotide position 4. The proline at codon 2 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |