ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3067C>T (p.Gln1023Ter)

dbSNP: rs1426121066
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578875 SCV000681192 uncertain significance not provided 2017-11-29 criteria provided, single submitter clinical testing The Q922X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The Q922X variant is not observed in large population cohorts (Lek et al., 2016). The Q922X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, the vast majority of variants reported in association with KIF1A-related disorders are missense variants (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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