ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.131del (p.Pro44fs) (rs727503023)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150632 SCV000197966 pathogenic Supravalvar aortic stenosis 2013-03-19 criteria provided, single submitter clinical testing The Pro44fs variant in ELN has not been reported in the literature, but has been identified by our laboratory in 1 individual with SVAS, SVPS and PPS. This vari ant results in a frameshift beginning at position 44 and leads to a premature st op codon 78 amino acids downstream. This alteration is predicted to lead to a tr uncated or absent protein. Truncating variants in ELN are an established cause o f SVAS (Human Gene Mutation Database, HGMD). In summary, the Pro44fs variant mee ts our criteria for pathogenicity (http://pcpgm.partners.org/lmm).

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