ClinVar Miner

Submissions for variant NM_020975.6(RET):c.208C>T (p.Gln70Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004529778 SCV004107914 pathogenic RET-related disorder 2023-01-09 criteria provided, single submitter clinical testing The RET c.208C>T variant is predicted to result in premature protein termination (p.Gln70*). This variant was reported in an individual with hirschsprung disease (Table S4 in So et al. 2011. PubMed ID: 22174939). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in RET are expected to be pathogenic. This variant is interpreted as pathogenic.

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