ClinVar Miner

Submissions for variant NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs)

dbSNP: rs2110167415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785402 SCV002026453 pathogenic Chopra-Amiel-Gordon syndrome 2025-03-04 criteria provided, single submitter clinical testing Criteria applied: PVS1, PS2_MOD, PM2
GeneDx RCV004728819 SCV005332575 pathogenic not provided 2023-07-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 33909992, 35998261, 35599849)

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