ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.1340A>G (p.Gln447Arg)

gnomAD frequency: 0.00018  dbSNP: rs138335198
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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 RCV002036614 SCV002317645 uncertain significance not provided 2022-05-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 447 of the DONSON protein (p.Gln447Arg). This variant is present in population databases (rs138335198, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with DONSON-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002551227 SCV003698200 uncertain significance Inborn genetic diseases 2020-12-11 criteria provided, single submitter clinical testing The c.1340A>G (p.Q447R) alteration is located in exon 8 (coding exon 8) of the DONSON gene. This alteration results from a A to G substitution at nucleotide position 1340, causing the glutamine (Q) at amino acid position 447 to be replaced by an arginine (R). The p.Q447R alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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