ClinVar Miner

Submissions for variant NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) (rs119103275)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000002335 SCV001386227 uncertain significance Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 2019-04-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 77 of the NCF2 protein (p.Arg77Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs119103275, ExAC 0.001%). This variant has been observed in individual(s) with chronic granulomatous disease (PMID: 10598813, 20167518). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 2247). 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: Deleterious; PolyPhen-2: Probably 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.
OMIM RCV000002335 SCV000022493 pathogenic Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 1999-11-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000002335 SCV000090882 not provided Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 no assertion provided not provided

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