ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.1340A>T (p.Asp447Val)

gnomAD frequency: 0.00007  dbSNP: rs781944350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239620 SCV001412506 uncertain significance Granulomatous disease, chronic, X-linked 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 447 of the CYBB protein (p.Asp447Val). This variant is present in population databases (rs781944350, gnomAD 0.007%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with CYBB-related conditions. ClinVar contains an entry for this variant (Variation ID: 965226). 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 CYBB protein function. 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 RCV004034623 SCV004852789 uncertain significance Inborn genetic diseases 2023-09-23 criteria provided, single submitter clinical testing The c.1340A>T (p.D447V) alteration is located in exon 11 (coding exon 11) of the CYBB gene. This alteration results from a A to T substitution at nucleotide position 1340, causing the aspartic acid (D) at amino acid position 447 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001834099 SCV002087148 uncertain significance Chronic granulomatous disease 2020-02-04 no assertion criteria provided clinical testing

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