ClinVar Miner

Submissions for variant NM_001972.4(ELANE):c.228C>G (p.Asn76Lys)

dbSNP: rs746799175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264614 SCV002543410 uncertain significance Autoinflammatory syndrome 2019-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418428 SCV004118649 uncertain significance ELANE-related disorder 2022-08-26 criteria provided, single submitter clinical testing The ELANE c.228C>G variant is predicted to result in the amino acid substitution p.Asn76Lys. 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. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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