ClinVar Miner

Submissions for variant NM_005051.3(QARS1):c.1288G>A (p.Asp430Asn)

dbSNP: rs753924453
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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 RCV002581412 SCV002941265 uncertain significance Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 2022-06-14 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with QARS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 430 of the QARS protein (p.Asp430Asn).
Ambry Genetics RCV004064564 SCV004935120 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.1288G>A (p.D430N) alteration is located in exon 14 (coding exon 14) of the QARS gene. This alteration results from a G to A substitution at nucleotide position 1288, causing the aspartic acid (D) at amino acid position 430 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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