ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.2249C>T (p.Ser750Phe)

dbSNP: rs1293778465
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372701 SCV001569382 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2023-07-07 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 750 of the QARS protein (p.Ser750Phe). This missense change has been observed in individual(s) with progressive microcephaly with seizures and cerebral and cerebellar atrophy (PMID: 33256324). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on QARS protein function. ClinVar contains an entry for this variant (Variation ID: 1062927).

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