Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000793111 | SCV000932451 | pathogenic | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn225Argfs*9) in the ELP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ELP1 are known to be pathogenic (PMID: 18303054, 24173031). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 640148). For these reasons, this variant has been classified as Pathogenic. |