ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.746T>C (p.Leu249Pro)

dbSNP: rs672601371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267513 SCV001445694 likely pathogenic Inborn genetic diseases 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV003156334 SCV003845807 pathogenic not provided 2022-09-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26125038, 21820098, 21376300, 29589274)

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