ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln)

gnomAD frequency: 0.00005  dbSNP: rs778807845
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208751 SCV001380157 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 538 of the QARS protein (p.Arg538Gln). This variant is present in population databases (rs778807845, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with QARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 813576). 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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.
GeneDx RCV001563017 SCV001785883 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25471517)
Ambry Genetics RCV002549245 SCV003723951 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.1613G>A (p.R538Q) alteration is located in exon 17 (coding exon 17) of the QARS gene. This alteration results from a G to A substitution at nucleotide position 1613, causing the arginine (R) at amino acid position 538 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252759 SCV001163902 uncertain significance Microcephaly no assertion criteria provided research

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