ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4970C>T (p.Ala1657Val)

gnomAD frequency: 0.00001  dbSNP: rs758879647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304871 SCV001494176 uncertain significance Charcot-Marie-Tooth disease type 2 2023-11-24 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1611 of the KIF1B protein (p.Ala1611Val). This variant is present in population databases (rs758879647, gnomAD 0.02%). 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: 1007653). 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 tolerated. 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 RCV002327667 SCV002634044 likely benign Hereditary cancer-predisposing syndrome 2022-04-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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