Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001328616 | SCV001519773 | uncertain significance | Dilated cardiomyopathy 1CC | 2020-06-03 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002447385 | SCV002676365 | uncertain significance | Cardiovascular phenotype | 2019-09-10 | criteria provided, single submitter | clinical testing | The p.Q287* variant (also known as c.859C>T), located in coding exon 7 of the NEXN gene, results from a C to T substitution at nucleotide position 859. This changes the amino acid from a glutamine to a stop codon within coding exon 7. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of NEXN has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |