Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001335514 | SCV001528679 | likely pathogenic | Kleefstra syndrome 2 | 2018-08-08 | criteria provided, single submitter | clinical testing | This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002547340 | SCV003600755 | uncertain significance | Inborn genetic diseases | 2022-02-08 | criteria provided, single submitter | clinical testing | The c.13198C>T (p.R4400W) alteration is located in exon 52 (coding exon 52) of the KMT2C gene. This alteration results from a C to T substitution at nucleotide position 13198, causing the arginine (R) at amino acid position 4400 to be replaced by a tryptophan (W). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |