ClinVar Miner

Submissions for variant NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter) (rs137853131)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380239 SCV001578230 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys168*) in the SLC27A4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs137853131, ExAC 0.06%). This variant has been reported as homozygous and/or in combination with another SLC27A4 variant in several individuals and families affected with ichthyosis prematurity syndrome (PMID: 21450060, 26783444, 22927265, 19631310). ClinVar contains an entry for this variant (Variation ID: 5742). Experimental studies have shown that patient-derived fibroblasts carrying this nonsense change exhibit reduced VLCFA-CoA synthetase activation (PMID: 19631310). Loss-of-function variants in SLC27A4 are known to be pathogenic (PMID: 19631310, 21450060). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006098 SCV000026280 pathogenic Ichthyosis prematurity syndrome 2009-08-01 no assertion criteria provided literature only

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