ClinVar Miner

Submissions for variant NM_031475.3(ESPN):c.2215C>G (p.Leu739Val)

gnomAD frequency: 0.00016  dbSNP: rs368795540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000609641 SCV000711020 likely benign not specified 2016-10-04 criteria provided, single submitter clinical testing p.Leu739Val in exon 10 of ESPN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, 3 mammals (pika, manatee, and Tasmanian devil) have a valine (Val) at this position despite high nearby amino acid conservation. It has also been identifie d in 5/41504 European chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs368795540).
GeneDx RCV001569016 SCV001792991 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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