ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.3930C>T (p.Asp1310=)

gnomAD frequency: 0.00004  dbSNP: rs368865450
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315469 SCV000849398 likely benign Inborn genetic diseases 2017-05-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001481842 SCV001686196 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001585673 SCV001811797 likely benign not provided 2020-07-23 criteria provided, single submitter clinical testing

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