ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2558G>A (p.Arg853Gln)

gnomAD frequency: 0.00002  dbSNP: rs752039135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236420 SCV001409143 uncertain significance Charcot-Marie-Tooth disease type 2 2022-03-15 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 962543). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs752039135, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 807 of the KIF1B protein (p.Arg807Gln).

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