ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2T>C (p.Met1Thr) (rs863223518)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195606 SCV000250053 pathogenic not provided 2017-11-15 criteria provided, single submitter clinical testing The c.2 T>C mutation in the ELN gene has been reported previously in association with peripheral pulmonary stenosis, supravavular aortic stenosis, and severe pulmonary emphysema (Louw et al., 2012). This mutation alters the initiator Methionine residue, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Methionine.Therefore, the presence of this mutation is consistent with the diagnosis of an ELN-related disorder. This variant was found in ELN"
Invitae RCV000627831 SCV000748711 likely pathogenic Supravalvar aortic stenosis 2019-10-21 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the ELN mRNA. There is no other in-frame ATG codon in the ELN gene that can rescue the translation of this gene. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with ELN-related disease (PMID: 22740173). ClinVar contains an entry for this variant (Variation ID: 213185). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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