ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2899T>A (p.Ser967Thr)

dbSNP: rs767558208
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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 RCV004064151 SCV002750341 uncertain significance not specified 2021-12-29 criteria provided, single submitter clinical testing The p.S921T variant (also known as c.2761T>A), located in coding exon 24 of the KIF1B gene, results from a T to A substitution at nucleotide position 2761. The serine at codon 921 is replaced by threonine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003581876 SCV004274976 uncertain significance Charcot-Marie-Tooth disease type 2 2023-04-28 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1795703). 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 serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 921 of the KIF1B protein (p.Ser921Thr).

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