ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys)

gnomAD frequency: 0.00001  dbSNP: rs755850268
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943820 SCV002192585 uncertain significance Charcot-Marie-Tooth disease type 2 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 835 of the KIF1B protein (p.Tyr835Cys). This variant is present in population databases (rs755850268, gnomAD 0.006%). This missense change has been observed in individual(s) with pheochromocytoma (PMID: 24694336). ClinVar contains an entry for this variant (Variation ID: 1421525). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004044110 SCV002739068 uncertain significance not specified 2022-09-05 criteria provided, single submitter clinical testing The p.Y835C variant (also known as c.2504A>G), located in coding exon 23 of the KIF1B gene, results from an A to G substitution at nucleotide position 2504. The tyrosine at codon 835 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration was identified in one case from a cohort of 86 pheochromocytomas as a germline variant (Welander J et al. J. Clin. Endocrinol. Metab., 2014 Jul;99:E1352-60). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) RCV003233037 SCV003930423 likely pathogenic Multiple endocrine neoplasia type 2A 2023-06-06 criteria provided, single submitter clinical testing

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