ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2978G>A (p.Arg993Gln)

gnomAD frequency: 0.00001  dbSNP: rs746107537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196810 SCV001367443 uncertain significance Hydrolethalus syndrome 2 2020-02-20 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP1.
Labcorp Genetics (formerly Invitae), Labcorp RCV003514491 SCV004290524 uncertain significance Acrocallosal syndrome 2022-12-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 993 of the KIF7 protein (p.Arg993Gln). 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: 930850). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. This variant is present in population databases (rs746107537, gnomAD 0.005%).
Ambry Genetics RCV004033466 SCV004892836 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.2978G>A (p.R993Q) alteration is located in exon 15 (coding exon 14) of the KIF7 gene. This alteration results from a G to A substitution at nucleotide position 2978, causing the arginine (R) at amino acid position 993 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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