ClinVar Miner

Submissions for variant NM_020975.6(RET):c.860G>T (p.Arg287Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853370 SCV000996239 likely pathogenic Hirschsprung disease 2019-01-25 criteria provided, single submitter clinical testing This variant is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. The c.860G>T (p.Arg287Leu) variant is predicted by multiple in-silico tools to have a deleterious effect on protein function. A different missense change at this position, c.860G>A (p.Arg287Gln), was classified as pathogenic by another clinical lab in ClinVar (RCV000678744.1) and has also been reported in the literature in an individual with Hirschsprung Disease (PMID: 10664228). Based on the available evidence, the c.860G>T (p.Arg287Leu) variant is classified as likely pathogenic.

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