ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.869G>A (p.Gly290Glu)

gnomAD frequency: 0.00001  dbSNP: rs531693490
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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 RCV001927065 SCV002202905 uncertain significance Acrocallosal syndrome 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 290 of the KIF7 protein (p.Gly290Glu). This variant is present in population databases (rs531693490, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1425997). Invitae Evidence 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 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. 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.
Ambry Genetics RCV004988938 SCV005611577 uncertain significance Inborn genetic diseases 2024-07-26 criteria provided, single submitter clinical testing The c.869G>A (p.G290E) alteration is located in exon 4 (coding exon 3) of the KIF7 gene. This alteration results from a G to A substitution at nucleotide position 869, causing the glycine (G) at amino acid position 290 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006248 SCV005640349 uncertain significance Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2024-04-22 criteria provided, single submitter clinical testing

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