ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3646G>A (p.Ala1216Thr)

gnomAD frequency: 0.00011  dbSNP: rs368057315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498449 SCV000590120 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000814577 SCV000954990 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737566 SCV005361520 uncertain significance KIF1A-related disorder 2024-09-07 no assertion criteria provided clinical testing The KIF1A c.3646G>A variant is predicted to result in the amino acid substitution p.Ala1216Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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