ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1339G>A (p.Ala447Thr) (rs139335797)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413993 SCV000492363 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ELN gene. The A447T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A447T variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Furthermore, this substitution occurs at a position that is conserved in mammals and A447T is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Illumina Clinical Services Laboratory,Illumina RCV000392949 SCV000469918 uncertain significance Cutis laxa, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303284 SCV000469919 uncertain significance Supravalvar aortic stenosis 2016-06-14 criteria provided, single submitter clinical testing

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