ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.253C>T (p.Arg85Cys)

gnomAD frequency: 0.00001  dbSNP: rs751101450
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847510 SCV002104940 uncertain significance Hereditary spastic paraplegia 2020-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002543355 SCV002961493 uncertain significance Spastic paraplegia 2022-06-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with RTN2-related conditions. This variant is present in population databases (rs751101450, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 85 of the RTN2 protein (p.Arg85Cys).

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