ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.5014G>C (p.Ala1672Pro)

gnomAD frequency: 0.00001  dbSNP: rs909290817
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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 RCV001046020 SCV001209901 uncertain significance Charcot-Marie-Tooth disease type 2 2022-05-21 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 843403). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1626 of the KIF1B protein (p.Ala1626Pro).
Ambry Genetics RCV004031421 SCV002635602 uncertain significance not specified 2023-08-28 criteria provided, single submitter clinical testing The p.A1626P variant (also known as c.4876G>C), located in coding exon 43 of the KIF1B gene, results from a G to C substitution at nucleotide position 4876. The alanine at codon 1626 is replaced by proline, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003425891 SCV004128369 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing KIF1B: PM2, BP4

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