ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.124C>G (p.Pro42Ala)

gnomAD frequency: 0.00004  dbSNP: rs769021701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001249726 SCV001423752 uncertain significance KIF7-related ciliopathy spectrum disorder 2019-10-29 criteria provided, single submitter clinical testing The KIF7 c.124C>G (p.Pro42Ala) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.0001816 in the African population of the Genome Aggregation Database in a region of good sequence coverage. The Pro42 residue is located in the kinesin motor domain. Based on the limited evidence, the p.Pro42Ala variant is classified as a variant of unknown significance for KIF7-related ciliopathy spectrum disorder.
GeneDx RCV001568216 SCV001792050 uncertain significance not provided 2020-06-11 criteria provided, single submitter clinical testing 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 RCV002568699 SCV003247080 uncertain significance Acrocallosal syndrome 2022-09-21 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) performed at Invitae indicates that this missense variant is not expected to disrupt KIF7 protein function. ClinVar contains an entry for this variant (Variation ID: 973291). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is present in population databases (rs769021701, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 42 of the KIF7 protein (p.Pro42Ala).

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