Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002523902 | SCV003296140 | pathogenic | not provided | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser116Leufs*18) in the NSMCE2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NSMCE2 are known to be pathogenic (PMID: 25105364, 26443207). This variant is present in population databases (rs757613817, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with clinical features of NSMCE2-related conditions (PMID: 25105364). ClinVar contains an entry for this variant (Variation ID: 372285). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000412505 | SCV000490360 | pathogenic | Seckel syndrome 10 | 2016-12-15 | no assertion criteria provided | literature only |