ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.671G>A (p.Arg224His)

gnomAD frequency: 0.00002  dbSNP: rs199589765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792454 SCV000931755 uncertain significance Combined oxidative phosphorylation defect type 27 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 224 of the CARS2 protein (p.Arg224His). This variant is present in population databases (rs199589765, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 639615). 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"). 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 RCV002535872 SCV003623757 uncertain significance Inborn genetic diseases 2022-05-09 criteria provided, single submitter clinical testing The c.671G>A (p.R224H) alteration is located in exon 7 (coding exon 7) of the CARS2 gene. This alteration results from a G to A substitution at nucleotide position 671, causing the arginine (R) at amino acid position 224 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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