Submissions for variant NM_198525.3(KIF7):c.2760G>A (p.Glu920=)

gnomAD frequency: 0.00003  dbSNP: rs777277054

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001806796	SCV002051246	likely benign	not specified	2021-12-18	criteria provided, single submitter	clinical testing	Variant summary: KIF7 c.2760G>A alters a conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.6e-05 in 247434 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2760G>A in individuals affected with Acrocallosal Syndrome/Joubert Syndrome 12 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002074174	SCV002490430	likely benign	Acrocallosal syndrome	2021-06-01	criteria provided, single submitter	clinical testing