ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4739G>A (p.Ser1580Asn)

dbSNP: rs2045427297
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995972 SCV002277115 uncertain significance Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2021-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331566 SCV002628360 uncertain significance Inborn genetic diseases 2018-08-09 criteria provided, single submitter clinical testing The p.S1479N variant (also known as c.4436G>A), located in coding exon 41 of the KIF1A gene, results from a G to A substitution at nucleotide position 4436. The serine at codon 1479 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, asparagine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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