ClinVar Miner

Submissions for variant NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)

dbSNP: rs574204412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330483 SCV001522167 uncertain significance Short-rib thoracic dysplasia 6 with or without polydactyly 2020-04-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001330483 SCV001619222 likely benign Short-rib thoracic dysplasia 6 with or without polydactyly 2023-02-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001330483 SCV003813596 uncertain significance Short-rib thoracic dysplasia 6 with or without polydactyly 2020-02-05 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001330483 SCV004047991 likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly flagged submission clinical testing The missense variant c.1334A>G (p.His445Arg) in the NEK1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.02% in the gnomAD Exomes and 0.06% in 1000 genome database. The amino acid Histidine at position 445 is changed to a Arginine changing protein sequence and it might alter its composition and physico-chemical properties. The residue is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. Another likely pathogenic variant (c.1161_1162insC; p.Glu388ArgfsTer16) in the NEK1 gene was detected in his spouse.

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