ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2869C>T (p.Leu957Phe)

dbSNP: rs1882602063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848522 SCV002105369 uncertain significance Hereditary spastic paraplegia 2021-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885417 SCV002244953 uncertain significance Spastic paraplegia 2022-11-22 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KIF5A protein function. ClinVar contains an entry for this variant (Variation ID: 1344419). This variant has not been reported in the literature in individuals affected with KIF5A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 957 of the KIF5A protein (p.Leu957Phe).

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