ClinVar Miner

Submissions for variant NM_022726.4(ELOVL4):c.646C>T (p.Arg216Ter)

gnomAD frequency: 0.00001  dbSNP: rs387906916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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