ClinVar Miner

Submissions for variant NM_001866.3(COX7B):c.107A>G (p.Lys36Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003439688 SCV004165903 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing COX7B: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV003439688 SCV004552365 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 36 of the COX7B protein (p.Lys36Arg). This variant is present in population databases (rs782304953, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with COX7B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004978872 SCV005566963 likely benign Inborn genetic diseases 2024-10-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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