ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.98A>G (p.Asn33Ser)

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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 RCV003058619 SCV003447929 uncertain significance Charcot-Marie-Tooth disease type 2 2022-10-26 criteria provided, single submitter clinical testing 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. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 33 of the KIF1B protein (p.Asn33Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KIF1B-related conditions. 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.
Ambry Genetics RCV004935298 SCV005613960 uncertain significance not specified 2024-11-14 criteria provided, single submitter clinical testing The p.N33S variant (also known as c.98A>G), located in coding exon 1 of the KIF1B gene, results from an A to G substitution at nucleotide position 98. The asparagine at codon 33 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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