ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)

dbSNP: rs863223529
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196960 SCV000250068 uncertain significance not specified 2014-12-08 criteria provided, single submitter clinical testing The c.1591_1592delGCinsTT variant in the ELN gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. It results in substitution of the Alanine 531 residue with a Phenylalanine residue, denoted A531F at the protein level. The c.1591_1592delGCinsTT variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant results in a semi-conservative amino acid substitution, may impact secondary protein structure as these residues differ in some properties. It occurs at a position that is well conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret c.1591_1592delGCinsTT as a variant of unknown significance. This variant was found in ELN
Fulgent Genetics, Fulgent Genetics RCV002478682 SCV002788011 uncertain significance Cutis laxa, autosomal dominant 1; Williams syndrome; Supravalvar aortic stenosis 2022-02-24 criteria provided, single submitter clinical testing

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