Submissions for variant NM_198525.3(KIF7):c.3345C>G (p.His1115Gln)

dbSNP: rs142032413

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000117422	SCV000170020	benign	not specified	2014-04-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000117422	SCV000226707	benign	not specified	2015-01-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117422	SCV000316991	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363675	SCV000394320	likely benign	Acrocallosal syndrome	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000363675	SCV000636832	benign	Acrocallosal syndrome	2024-01-31	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000677323	SCV000803539	benign	Hydrolethalus syndrome 2	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign, for Hydrolethalus syndrome 2, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: PS3-Moderate => PS3 downgraded in strength to Moderate. BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
CeGaT Center for Human Genetics Tuebingen	RCV002262708	SCV002545311	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KIF7: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002490798	SCV002796726	likely benign	Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2	2021-10-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117422	SCV000151623	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Miller Scoliosis Laboratory, University of Colorado Anschutz Medical Campus	RCV001290030	SCV001426138	uncertain significance	Scoliosis, isolated, susceptibility to, 1	2020-02-01	no assertion criteria provided	case-control	Several affected individuals within a multigenerational family possess the variant in question. Mutations in this gene were also found to cause scoliosis in a zebrafish model.