ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser)

gnomAD frequency: 0.00004  dbSNP: rs764612223
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000490061 SCV000577411 uncertain significance not provided 2017-03-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KIF5A gene. The P935S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P935S variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P935S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Center for Human Genetics Tuebingen RCV000490061 SCV001748373 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing KIF5A: PM2, BP4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000490061 SCV002009749 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002526034 SCV003253024 likely benign Spastic paraplegia 2024-10-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737559 SCV005352095 uncertain significance KIF5A-related disorder 2024-06-10 no assertion criteria provided clinical testing The KIF5A c.2803C>T variant is predicted to result in the amino acid substitution p.Pro935Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% 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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