ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3566G>A (p.Arg1189Gln)

gnomAD frequency: 0.00002  dbSNP: rs759709247
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754381 SCV001987494 uncertain significance not provided 2019-04-22 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882813 SCV002129102 uncertain significance Acrocallosal syndrome 2021-09-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1189 of the KIF7 protein (p.Arg1189Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs759709247, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with KIF7-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV004988717 SCV005611582 uncertain significance Inborn genetic diseases 2024-08-05 criteria provided, single submitter clinical testing The c.3566G>A (p.R1189Q) alteration is located in exon 18 (coding exon 17) of the KIF7 gene. This alteration results from a G to A substitution at nucleotide position 3566, causing the arginine (R) at amino acid position 1189 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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