ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.631C>T (p.Pro211Ser) (rs1064793880)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486139 SCV000567252 pathogenic not provided 2015-08-10 criteria provided, single submitter clinical testing The P211S variant in the ELN gene has previously been reported in the homozygous state in threeindividuals from two related consanguineous families in Syria with autosomal recesesive cutis laxa (Megarbaneet al., 2009). The P211S substitution was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project; however, data from ethnically-matchedcontrol individuals were not available to assess for a population-specific benign variant. The P211S variant is anon-conservative amino acid substitution, which occurs at a position that is conserved in mammalian species.We interpret P211S as a pathogenic variant.

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