ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1537C>T (p.Arg513Trp)

gnomAD frequency: 0.00001  dbSNP: rs143777330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687322 SCV000814885 uncertain significance Combined oxidative phosphorylation defect type 27 2022-10-13 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 567287). This variant has not been reported in the literature in individuals affected with CARS2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 513 of the CARS2 protein (p.Arg513Trp).
Ambry Genetics RCV002544775 SCV003663189 uncertain significance Inborn genetic diseases 2022-09-07 criteria provided, single submitter clinical testing The c.1537C>T (p.R513W) alteration is located in exon 14 (coding exon 14) of the CARS2 gene. This alteration results from a C to T substitution at nucleotide position 1537, causing the arginine (R) at amino acid position 513 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003151804 SCV003840676 uncertain significance not provided 2023-03-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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