ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.19C>T (p.Arg7Cys)

dbSNP: rs201693843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705131 SCV000252159 uncertain significance not provided 2019-03-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001705131 SCV003446346 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 7 of the RARS2 protein (p.Arg7Cys). This variant is present in population databases (rs201693843, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 215056). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001833149 SCV002079912 uncertain significance Pontocerebellar hypoplasia type 6 2019-11-11 no assertion criteria provided clinical testing

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