ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=)

gnomAD frequency: 0.00003  dbSNP: rs747267404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928860 SCV001074481 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2022-10-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818893 SCV002067100 uncertain significance not specified 2018-06-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438595 SCV004149658 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing KIF1A: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004738087 SCV005353953 likely benign KIF1A-related disorder 2024-08-06 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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