ClinVar Miner

Submissions for variant NM_020975.6(RET):c.712G>T (p.Glu238Ter)

dbSNP: rs1588866040
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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 RCV000853339 SCV000996199 pathogenic Hirschsprung disease, susceptibility to, 1 2018-09-27 criteria provided, single submitter clinical testing This nonsense variant is found in exon 4 of 20 is predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge, however numerous pathogenic nonsense variants downstream of the p.Glu238Ter variant are present in the Human Gene Mutation Database (HGMD). It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Based on the available evidence, the c.712G>T (p.Glu238Ter )variant is classified as pathogenic.

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