ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)

dbSNP: rs387907045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics, University of Zurich RCV000023883 SCV000579459 pathogenic Acrocallosal syndrome 2017-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000023883 SCV002240611 pathogenic Acrocallosal syndrome 2021-08-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 30897). This premature translational stop signal has been observed in individual(s) with Acrocallosal syndrome (PMID: 21552264, 29321670). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1001*) 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).
GeneDx RCV003329235 SCV004036688 pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing Observed with a likely pathogenic variant in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Asadollahi et al., 2018); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21552264, 29321670, 33382518, 26147798, 22587682)
OMIM RCV000023883 SCV000045174 pathogenic Acrocallosal syndrome 2011-06-01 no assertion criteria provided literature only

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