Submissions for variant NM_001244008.2(KIF1A):c.4130A>G (p.Asn1377Ser)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002333063	SCV002628552	uncertain significance	Inborn genetic diseases	2021-12-30	criteria provided, single submitter	clinical testing	The p.N1377S variant (also known as c.4130A>G), located in coding exon 39 of the KIF1A gene, results from an A to G substitution at nucleotide position 4130. The asparagine at codon 1377 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003102525	SCV003444954	likely benign	Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9	2024-07-18	criteria provided, single submitter	clinical testing
GeneDx	RCV004763375	SCV005372423	uncertain significance	not provided	2023-06-13	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge