Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
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%). |