ClinVar Miner

Submissions for variant NM_000501.4(ELN):c.2032G>A (p.Gly678Ser) (rs375579231)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197280 SCV000250051 uncertain significance not provided 2015-04-28 criteria provided, single submitter clinical testing The G678S variant in the ELN gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G678S variant was not observed with a 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. The G678S variant 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. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. As an alternate mechanism, the G678S (c.2032G>A) is predicted to reduce the quality of the splice donor site of intron 30, and may cause abnormal gene splicing.We interpret G678S as a variant of unknown significance. This variant was found in ELN.

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