ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.608del (p.Pro203fs) (rs727504581)

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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 RCV000155754 SCV000205465 pathogenic Supravalvar aortic stenosis 2013-04-26 criteria provided, single submitter clinical testing The Pro203fs variant in ELN has not been previously published or detected in our laboratory. This variant results in a frameshift beginning at position 203 and leads to a premature stop codon 120 amino acids downstream. This alteration is p redicted to lead to a truncated or absent protein. Truncating variants in ELN ar e an established cause of SVAS (Human Gene Mutation Database, HGMD). In summary, the Pro203fs variant meets our criteria for pathogenicity (http://pcpgm.partner s.org/lmm) based on the predicted impact of the variant.

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