ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.1870C>T (p.Arg624Trp)

gnomAD frequency: 0.00002  dbSNP: rs748248329
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763888 SCV002000096 uncertain significance not provided 2020-10-22 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; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001868597 SCV002163815 likely benign Spastic paraplegia 2023-08-24 criteria provided, single submitter clinical testing

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