ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.1217G>A (p.Arg406Gln)

dbSNP: rs369158895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847507 SCV002104934 likely benign Hereditary spastic paraplegia 2018-01-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003328486 SCV004035211 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365459 SCV004069925 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.1217G>A (p.R406Q) alteration is located in exon 6 (coding exon 6) of the RTN2 gene. This alteration results from a G to A substitution at nucleotide position 1217, causing the arginine (R) at amino acid position 406 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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