Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Rady Children's Institute for Genomic Medicine, |
RCV000853370 | SCV000996239 | likely pathogenic | Aganglionic megacolon | 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. |