ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.800-3C>G (rs397516433)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624154 SCV000742567 pathogenic Inborn genetic diseases 2017-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000199556 SCV000250041 pathogenic not provided 2018-11-13 criteria provided, single submitter clinical testing The c.800-3 C>G splice site variant in the ELN gene has been previously reported in a family with supravalvular aortic stenosis (SVAS), and was absent from >375 control DNA samples (Li et al., 1997). The c.800-3 C>G splice site variant in the ELN gene destroys the canonical splice acceptor site in intron 15 and is expected to cause abnormal gene splicing. Therefore, its presence is consistent with the diagnosis of an ELN-associated disorder.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036528 SCV000060183 pathogenic Supravalvar aortic stenosis 2011-07-21 criteria provided, single submitter clinical testing The 800-3C>G variant has been reported in 3 families with SVAS and segregated wi th disease in >10 affected individuals (Li 1997, Urban 1999). The variant was no t detected in over 900 control chromosomes, supporting a pathogenic role (Li 199 7, Urban 1999). This variant is located in the 3' splice region and although it does not affect the highly conserved -1 and -2 positions, molecular studies show ed abnormal splicing and skipping of exon 16 (Urban 1999, Wachi 2007). In summar y, the 800-3C>G variant meets our criteria for pathogenicity (http://pcpgm.partn based on the severity of the change, segregation with disease, func tional studies, and absence from controls.
OMIM RCV000036528 SCV000038492 pathogenic Supravalvar aortic stenosis 1999-02-01 no assertion criteria provided literature only

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