ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1819G>A (p.Val607Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004059878 SCV002712848 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing The c.1681G>A (p.V561I) alteration is located in exon 18 (coding exon 17) of the KIF1B gene. This alteration results from a G to A substitution at nucleotide position 1681, causing the valine (V) at amino acid position 561 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003097106 SCV003498915 uncertain significance Charcot-Marie-Tooth disease type 2 2023-03-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 561 of the KIF1B protein (p.Val561Ile). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1777925). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIF1B protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV005042827 SCV005675531 uncertain significance Charcot-Marie-Tooth disease type 2A1; Neuroblastoma, susceptibility to, 1 2024-06-19 criteria provided, single submitter clinical testing

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