ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys)

gnomAD frequency: 0.00004  dbSNP: rs764970503
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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 RCV001221580 SCV001393635 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-12-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334236 SCV001527028 uncertain significance Intellectual disability, autosomal dominant 9 2018-04-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV002281173 SCV002569592 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Previously reported as a variant of uncertain significance in an individual with progressive cerebellar ataxia (Fogel et al., 2014); This variant is associated with the following publications: (PMID: 25133958)

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