ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1992del (p.Val665fs)

dbSNP: rs775849720
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004721405 SCV005327141 likely pathogenic not provided 2023-11-07 criteria provided, single submitter clinical testing 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; Not observed at significant frequency in large population cohorts (gnomAD); Reported heterozygous using alternate nomenclature as c.1992del, p.(V665Cfs*34) with no second variant detected in two families with short-rib polydactyly syndrome (PMID: 29068549); This variant is associated with the following publications: (PMID: 32462798, 35910219, 29068549)
Dan Cohn Lab, University Of California Los Angeles RCV000515854 SCV000612120 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515854 SCV001479620 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research

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