ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) (rs114610092)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000294954 SCV000343863 likely benign not specified 2016-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000766493 SCV000589448 uncertain significance not provided 2016-06-28 criteria provided, single submitter clinical testing The E135K variant has been published previously as as a benign variant (Rae et al., 2000). The NHLBI Exome Sequencing Project reports the variant was observed in 9/2910 (0.31%) alleles from individuals of African-American background, and the 1000 Genomes Project Consortium reports E135K was observed in 18/1322 (1.36%) alleles from individuals of African background, indicating it may be a rare variant in these populations. However, the variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001080551 SCV000763957 benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2020-12-04 criteria provided, single submitter clinical testing

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