ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln)

gnomAD frequency: 0.00004  dbSNP: rs144277716
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756293 SCV000884061 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing The KIF5A c.341G>A; p.Arg114Gln variant (rs144277716), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.002% (identified on 5 out of 245,788 chromosomes). The arginine at position 114 is weakly conserved, considering 13 species, and computational analyses of the effects of the p.Arg114Gln variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Arg114Gln variant cannot be determined with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855872 SCV002317579 benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing

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