ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.4855C>G (p.Pro1619Ala)

gnomAD frequency: 0.00016  dbSNP: rs146177892
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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 RCV001504882 SCV001709768 likely benign Charcot-Marie-Tooth disease type 2 2024-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037839 SCV002637960 likely benign not specified 2020-10-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003921060 SCV004727929 likely benign KIF1B-related disorder 2022-03-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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