ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.818A>G (p.Asn273Ser)

gnomAD frequency: 0.00005  dbSNP: rs200736711
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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 RCV001207975 SCV001379343 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2022-06-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 273 of the QARS protein (p.Asn273Ser). This variant is present in population databases (rs200736711, 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: 938701). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV004960538 SCV005480544 uncertain significance Inborn genetic diseases 2024-07-15 criteria provided, single submitter clinical testing The c.818A>G (p.N273S) alteration is located in exon 10 (coding exon 10) of the QARS gene. This alteration results from a A to G substitution at nucleotide position 818, causing the asparagine (N) at amino acid position 273 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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