ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.5173G>A (p.Val1725Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004050921 SCV002640953 uncertain significance not specified 2023-11-22 criteria provided, single submitter clinical testing The p.V1679I variant (also known as c.5035G>A), located in coding exon 44 of the KIF1B gene, results from a G to A substitution at nucleotide position 5035. The valine at codon 1679 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154068 SCV003843803 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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