ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1646G>A (p.Arg549Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002637452 SCV003513755 uncertain significance Acrocallosal syndrome 2022-06-22 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 549 of the KIF7 protein (p.Arg549Gln). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004070712 SCV004892825 uncertain significance Inborn genetic diseases 2024-03-08 criteria provided, single submitter clinical testing The c.1646G>A (p.R549Q) alteration is located in exon 7 (coding exon 6) of the KIF7 gene. This alteration results from a G to A substitution at nucleotide position 1646, causing the arginine (R) at amino acid position 549 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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