ClinVar Miner

Submissions for variant NM_004523.4(KIF11):c.980G>A (p.Arg327His)

gnomAD frequency: 0.00006  dbSNP: rs746977730
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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 RCV001367340 SCV001563687 likely benign not provided 2023-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026931 SCV004892391 uncertain significance Inborn genetic diseases 2023-01-27 criteria provided, single submitter clinical testing The c.980G>A (p.R327H) alteration is located in exon 8 (coding exon 8) of the KIF11 gene. This alteration results from a G to A substitution at nucleotide position 980, causing the arginine (R) at amino acid position 327 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723331 SCV000854727 uncertain significance Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 2018-07-14 no assertion criteria provided clinical testing

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