ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.391A>G (p.Asn131Asp)

gnomAD frequency: 0.00001  dbSNP: rs770849620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928447 SCV002183721 uncertain significance Charcot-Marie-Tooth disease type 2 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 131 of the KIF1B protein (p.Asn131Asp). This variant is present in population databases (rs770849620, gnomAD 0.01%). 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: 1413972). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt KIF1B protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV004043414 SCV002624098 uncertain significance not specified 2023-05-03 criteria provided, single submitter clinical testing The c.391A>G (p.N131D) alteration is located in exon 5 (coding exon 4) of the KIF1B gene. This alteration results from a A to G substitution at nucleotide position 391, causing the asparagine (N) at amino acid position 131 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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