ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)

gnomAD frequency: 0.00001  dbSNP: rs758677637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab, University Of California Los Angeles RCV000515960 SCV000612092 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 RCV000515960 SCV001479751 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004742475 SCV005354872 pathogenic NEK1-related disorder 2024-05-11 no assertion criteria provided clinical testing The NEK1 c.1618C>T variant is predicted to result in premature protein termination (p.Arg540*). This variant was reported along with a second premature termination variant in a patient with short-rib thoracic dysplasia type II (Table S2, Zhang et al. 2017. PubMed ID: 29068549). This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD, including 11 heterozygous individuals in the gnomAD v4.1.0 dataset (https://gnomad.broadinstitute.org/variant/4-169537856-G-A?dataset=gnomad_r4). Nonsense variants in NEK1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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