Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666771 | SCV000791121 | likely pathogenic | Spondylocostal dysostosis 2, autosomal recessive | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530694 | SCV003336417 | pathogenic | not provided | 2022-03-24 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 551651). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MESP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln117*) in the MESP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MESP2 are known to be pathogenic (PMID: 9242490, 18485326). |