ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2578_2579del (p.Gln860fs)

dbSNP: rs2538569005
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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 RCV004539017 SCV004104294 likely pathogenic RET-related disorder 2023-01-26 criteria provided, single submitter clinical testing The RET c.2578_2579delCA variant is predicted to result in a frameshift and premature protein termination (p.Gln860Glyfs*24). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in RET are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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