ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3281C>G (p.Ser1094Ter)

dbSNP: rs1555423165
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522960 SCV000620718 pathogenic not provided 2017-09-15 criteria provided, single submitter clinical testing The S1094X variant in the KIF7 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S1094X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret S1094X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381328 SCV001579654 pathogenic Acrocallosal syndrome 2020-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 451951). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1094*) in the KIF7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIF7 are known to be pathogenic (PMID: 19666503, 21552264, 21633164, 26648833).

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