ClinVar Miner

Submissions for variant NM_022726.4(ELOVL4):c.670-1G>A

dbSNP: rs1561982219
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679978 SCV000807412 pathogenic Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 2017-09-01 criteria provided, single submitter clinical testing This splice site mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory in trans with another deleterious mutation in a 2-year-old female with ichthyosis, global delays, retinal dystrophy, cortical blindness, scoliosis, abnormal EEG, laryngomalacia.
GeneDx RCV003324785 SCV004031038 likely pathogenic not provided 2023-08-24 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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