ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.919_952dup (p.Pro318fs)

dbSNP: rs2134747667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382781 SCV001581686 pathogenic Cutis laxa, autosomal recessive, type 1B 2023-05-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1070589). This variant has not been reported in the literature in individuals affected with EFEMP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro318Leufs*18) in the EFEMP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EFEMP2 are known to be pathogenic (PMID: 17937443).

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