ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.800-1G>A

dbSNP: rs2131847938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001659075 SCV001875282 pathogenic not provided 2024-08-06 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
PreventionGenetics, part of Exact Sciences RCV004528527 SCV004104975 pathogenic ELN-related disorder 2023-08-13 criteria provided, single submitter clinical testing The ELN c.800-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in ELN are expected to be pathogenic and other variants affecting this splice site (c.800-2A>G, c.800-1G>T) have been reported as pathogenic (IVS15-2A>G in Li et al. 1997. PubMed ID: 9215670; Hu et al. 2020. PubMed ID: 32595695). This variant is interpreted as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005038277 SCV005667452 likely pathogenic Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 2024-02-13 criteria provided, single submitter clinical testing

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