ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1109G>A (p.Arg370His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311622 SCV001501873 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV001343120 SCV001537083 uncertain significance Charcot-Marie-Tooth disease, type 2 2020-04-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 364 of the KIF1B protein (p.Arg364His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KIF1B-related conditions. 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: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.

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