ClinVar Miner

Submissions for variant NM_020975.6(RET):c.73+9277T>C

gnomAD frequency: 0.79636  dbSNP: rs2435357
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611595 SCV000729738 benign not specified 2017-12-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000627056 SCV000747764 risk factor Aganglionic megacolon 2017-11-20 criteria provided, single submitter clinical testing This variant was identified in a patient with Hirschsprung disease and a positive familial history. The patient harbours also a variant in the SEMA3D gene, which is a VUS for this disease.
Invitae RCV001515285 SCV001723323 benign Multiple endocrine neoplasia, type 2 2024-01-22 criteria provided, single submitter clinical testing
OMIM RCV000014980 SCV000035236 risk factor Hirschsprung disease, susceptibility to, 1 2010-07-09 no assertion criteria provided literature only
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000014980 SCV001167343 risk factor Hirschsprung disease, susceptibility to, 1 2020-02-19 no assertion criteria provided clinical testing A heterozygous variant c.73+9277T>C in intron 1 of the RET gene was detected. Presence of this allele has been identified to increase risk of Hirschprung disease by 5.7X compared to people who don't carry the variant (Virtanen et al. EJHG 2019). The allele frequency for the variant is 0.774 as given in gnomAD genomes. In summary, the variant meets our criteria to be classified as a risk factor for Hirschprung disease.

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