ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3604C>T (p.Arg1202Cys)

gnomAD frequency: 0.00001  dbSNP: rs759228543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245860 SCV001419179 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-09-26 criteria provided, single submitter clinical testing
GeneDx RCV002285464 SCV002575718 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing Reported as a heterozygous apparently de novo variant in a patient with hereditary spastic paraplegia in published literature (Vecchia et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34487232)

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