ClinVar Miner

Submissions for variant NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser)

gnomAD frequency: 0.00008  dbSNP: rs370591311
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335682 SCV001528903 uncertain significance Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 2018-05-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546744 SCV003721514 uncertain significance Inborn genetic diseases 2022-02-24 criteria provided, single submitter clinical testing The c.1813G>T (p.A605S) alteration is located in exon 9 (coding exon 8) of the KIF14 gene. This alteration results from a G to T substitution at nucleotide position 1813, causing the alanine (A) at amino acid position 605 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003399120 SCV004105474 uncertain significance KIF14-related disorder 2023-01-10 criteria provided, single submitter clinical testing The KIF14 c.1813G>T variant is predicted to result in the amino acid substitution p.Ala605Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-200573017-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV004563006 SCV005049809 uncertain significance Microcephaly 20, primary, autosomal recessive 2024-01-14 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV004563006 SCV005087248 uncertain significance Microcephaly 20, primary, autosomal recessive 2023-12-21 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3A. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with autosomal recessive primary microcephaly 20 (MIM#617914). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from alanine to serine. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v3: 10 heterozygotes, 0 homozygotes). (SP) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated kinesin motor domain (DECIPHER). (I) 0705 - No comparable missense variants have previous evidence for pathogenicity. (I) 0809 - Previous evidence of pathogenicity for this variant is inconclusive. This variant has been reported as a VUS by clinical testing laboratories (ClinVar). (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.