ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu)

gnomAD frequency: 0.00094  dbSNP: rs143816642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987073 SCV001136266 uncertain significance Hereditary spastic paraplegia 30 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434373 SCV002751943 likely benign Inborn genetic diseases 2023-09-14 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.
Breakthrough Genomics, Breakthrough Genomics RCV004693424 SCV005187471 uncertain significance not provided criteria provided, single submitter not provided

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