ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.1413C>G (p.His471Gln)

gnomAD frequency: 0.00016  dbSNP: rs187815721
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588349 SCV001822689 uncertain significance not provided 2022-05-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001588349 SCV003477449 uncertain significance not provided 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 471 of the RARS2 protein (p.His471Gln). This variant is present in population databases (rs187815721, gnomAD 0.06%). 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: 1219260). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV004039523 SCV004936933 uncertain significance Inborn genetic diseases 2023-12-08 criteria provided, single submitter clinical testing The c.1413C>G (p.H471Q) alteration is located in exon 16 (coding exon 16) of the RARS2 gene. This alteration results from a C to G substitution at nucleotide position 1413, causing the histidine (H) at amino acid position 471 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827539 SCV002079896 uncertain significance Pontocerebellar hypoplasia type 6 2020-02-21 no assertion criteria provided clinical testing

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