ClinVar Miner

Submissions for variant NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro)

dbSNP: rs1555167299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497582 SCV000589752 likely pathogenic not provided 2017-10-26 criteria provided, single submitter clinical testing The L651P variant in the KIF21A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L651P variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L651P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The L651P variant is a strong candidate for a pathogenic variant however the possibility it may be a rare benign variant cannot be excluded.
Undiagnosed Diseases Network, NIH RCV003159607 SCV003915650 uncertain significance KIF21A-related disorder 2022-09-26 no assertion criteria provided clinical testing

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