Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498461 | SCV000589530 | likely pathogenic | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation, as the last 99 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26010696, 22100072, 24571530, 26427403, 33556440, 31616255, 37568198, 37592902, 30982505) |
Invitae | RCV000498461 | SCV003439475 | pathogenic | not provided | 2022-07-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ELOVL4 protein in which other variant(s) (p.Asn264Leufs*9) have been determined to be pathogenic (PMID: 11138005, 23509295, 24833735). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 30494). This premature translational stop signal has been observed in individual(s) with autosomal recessive ichthyosis, spastic quadriplegia, and intellectual disability (PMID: 22100072). This variant is present in population databases (rs387906916, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg216*) in the ELOVL4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 99 amino acid(s) of the ELOVL4 protein. |
OMIM | RCV000023451 | SCV000044742 | pathogenic | Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome | 2011-12-09 | no assertion criteria provided | literature only |