ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1847C>T (p.Thr616Met)

gnomAD frequency: 0.00006  dbSNP: rs370071963
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694998 SCV000823472 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2023-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997712 SCV001153387 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000997712 SCV001788820 uncertain significance not provided 2023-02-13 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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849060 SCV002104824 uncertain significance Hereditary spastic paraplegia 2017-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406593 SCV002715137 uncertain significance Inborn genetic diseases 2022-02-02 criteria provided, single submitter clinical testing The p.T616M variant (also known as c.1847C>T), located in coding exon 20 of the KIF1A gene, results from a C to T substitution at nucleotide position 1847. The threonine at codon 616 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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