ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2887T>A (p.Ser963Thr)

gnomAD frequency: 0.00001  dbSNP: rs567836651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500907 SCV000595422 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing
GeneDx RCV001662495 SCV001875271 uncertain significance not provided 2024-05-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001857116 SCV002189973 uncertain significance Acrocallosal syndrome 2023-05-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KIF7 protein function. ClinVar contains an entry for this variant (Variation ID: 435645). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is present in population databases (rs567836651, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 963 of the KIF7 protein (p.Ser963Thr).
Fulgent Genetics, Fulgent Genetics RCV002481621 SCV002775542 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2021-09-11 criteria provided, single submitter clinical testing

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