ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.416G>A (p.Gly139Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004528587 SCV004108825 uncertain significance ELN-related disorder 2023-09-01 criteria provided, single submitter clinical testing The ELN c.416G>A variant is predicted to result in the amino acid substitution p.Gly139Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0061% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-73457487-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005036779 SCV005667450 uncertain significance Cutis laxa, autosomal dominant 1; Supravalvar aortic stenosis 2024-03-01 criteria provided, single submitter clinical testing

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