Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001851701 | SCV002243462 | pathogenic | Diamond-Blackfan anemia | 2021-10-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg113*) in the RPS10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPS10 are known to be pathogenic (PMID: 20116044, 23718193). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 6187). This premature translational stop signal has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 20116044). This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV001851701 | SCV002618200 | pathogenic | Diamond-Blackfan anemia | 2019-01-14 | criteria provided, single submitter | clinical testing | The p.R113* pathogenic mutation (also known as c.337C>T), located in coding exon 3 of the RPS10 gene, results from a C to T substitution at nucleotide position 337. This changes the amino acid from an arginine to a stop codon within coding exon 3. This mutation was identified in multiple individuals with Diamond-Blackfan anemia (Doherty L et al. Am. J. Hum. Genet., 2010 Feb;86:222-8; Gerrard G et al. Br. J. Haematol., 2013 Aug;162:530-6). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| OMIM | RCV000006564 | SCV000026747 | pathogenic | Diamond-Blackfan anemia 9 | 2013-08-01 | no assertion criteria provided | literature only |