ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2151del (p.Ala718fs)

dbSNP: rs2132828209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV002225215 SCV002503789 likely pathogenic Cutis laxa, autosomal dominant 1 2022-04-22 criteria provided, single submitter clinical testing This sequence change is a deletion of 1 bp in exon 33 (of 33) of ELN that is predicted to alter the C-terminal amino acid sequence with read-through into the 3'UTR, extending the protein by 25 amino acids, p.(Ala718Leufs*33). It is not expected to result in nonsense-mediated decay. Multiple frameshift variants with a similar predicted effect have been identified in cutis laxa cases (with stable transcript expression demonstrated), and in vitro/in vivo models result in impaired elastic fibre formation and reduced elastin quality (PMID: 20600892, 21309044, SCV000236551.1). The variant is absent in a large population cohort (gnomAD v2.1), and has not been reported in the relevant medical literature or databases. Based on the classification scheme RMH ACMG Guidelines v1.2.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1_Strong, PM2.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003314033 SCV004013935 likely pathogenic Supravalvar aortic stenosis 2023-07-10 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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