ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4374_4375delinsTA (p.Glu1459Lys)

dbSNP: rs2125604899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658884 SCV001874072 uncertain significance not provided 2021-07-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Additionally, in silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis supports a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27535533)

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