ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.962T>C (p.Val321Ala)

gnomAD frequency: 0.00001  dbSNP: rs913347544
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001966501 SCV002254619 uncertain significance Acrocallosal syndrome 2022-08-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 321 of the KIF7 protein (p.Val321Ala). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). ClinVar contains an entry for this variant (Variation ID: 1467686).
GeneDx RCV004591671 SCV005079624 uncertain significance not provided 2024-04-12 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
Fulgent Genetics, Fulgent Genetics RCV005008326 SCV005640342 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-01-22 criteria provided, single submitter clinical testing

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