ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1945_1947del (p.Ser649del)

dbSNP: rs766127664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174216 SCV001337343 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002411670 SCV002713988 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-27 criteria provided, single submitter clinical testing The c.1807_1809delTCT variant (also known as p.S603del) is located in coding exon 18 of the KIF1B gene. This variant results from an in-frame TCT deletion at nucleotide positions 1807 to 1809. This results in the in-frame deletion of a serine at codon 603. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003117801 SCV003784333 uncertain significance Charcot-Marie-Tooth disease type 2 2022-09-13 criteria provided, single submitter clinical testing This variant, c.1807_1809del, results in the deletion of 1 amino acid(s) of the KIF1B protein (p.Ser603del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 917339). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. This variant is present in population databases (rs766127664, gnomAD 0.002%).

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