Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002691310 | SCV003543971 | uncertain significance | Inborn genetic diseases | 2022-10-12 | criteria provided, single submitter | clinical testing | The c.203A>G (p.H68R) alteration is located in exon 3 (coding exon 3) of the DNAJC21 gene. This alteration results from a A to G substitution at nucleotide position 203, causing the histidine (H) at amino acid position 68 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Center for Genomic Medicine, |
RCV004765378 | SCV005375239 | uncertain significance | Bone marrow failure syndrome 3 | 2024-10-13 | criteria provided, single submitter | clinical testing | This variant (GRCh38; NM_001012339.3:c.203A>G:p.His68Arg) results in a missense mutation with the conversion of Histidine (Basic amino acid) to Arginine (Basic amino acid) in the DNAJC21 protein. Not observed at significant frequency in large population cohorts (gnomAD). This variant has a strong Conservation score. Multiple lines of computational evidence of this variant support a deleterious effect on the gene or gene product for this variant. A literature search was performed for the gene and associated variants. Based on this search no publications were found. Based on conflicting evidence or insufficient data to determine whether the variant is benign or pathogenic, the clinical significance of this alteration remains unclear. In summary, this variant meets our criteria for classification as of Unknown Clinical Significance based on the evidence outlined. |