ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4255A>G (p.Ser1419Gly)

dbSNP: rs1388325896
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332408 SCV001524730 uncertain significance Intellectual disability, autosomal dominant 9 2019-04-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003120558 SCV003798793 uncertain significance not provided 2022-08-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis 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 that this missense variant does not alter protein structure/function

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