ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)

gnomAD frequency: 0.00002  dbSNP: rs774586838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046214 SCV002316951 likely benign Spastic paraplegia 2024-09-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134366 SCV003810046 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553636 SCV004119336 uncertain significance KIF5A-related disorder 2023-01-06 criteria provided, single submitter clinical testing The KIF5A c.1076C>T variant is predicted to result in the amino acid substitution p.Thr359Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-57963425-C-T). 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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