Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000622567 | SCV000741263 | likely pathogenic | Inborn genetic diseases | 2020-03-10 | criteria provided, single submitter | clinical testing | The alteration results in an amino acid change:_x000D_ _x000D_ The c.3659A>C (p.K1220T) alteration is located in exon 24 (coding exon 23) of the CHD4 gene. This alteration results from a A to C substitution at nucleotide position 3659, causing the lysine (K) at amino acid position 1220 to be replaced by a threonine (T). The alteration is not observed in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the CHD4 c.3659A>C alteration was not observed, with coverage at this position. The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.K1220 amino acid is conserved in available vertebrate species. The alteration is predicted inconclusive by in silico modeling:_x000D_ _x000D_ The in silico prediction for the p.K1220T alteration is inconclusive. Based on the available evidence, this alteration is classified as likely pathogenic. |
| Gene |
RCV004777771 | SCV005389730 | uncertain significance | not provided | 2024-03-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |