ClinVar Miner

Submissions for variant NM_000097.7(CPOX):c.212G>C (p.Gly71Ala)

gnomAD frequency: 0.00143  dbSNP: rs572522263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001146747 SCV001307502 benign Hereditary coproporphyria 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002557145 SCV003257724 uncertain significance not provided 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 71 of the CPOX protein (p.Gly71Ala). This variant is present in population databases (rs572522263, gnomAD 0.4%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CPOX-related conditions. ClinVar contains an entry for this variant (Variation ID: 901085). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Breakthrough Genomics, Breakthrough Genomics RCV002557145 SCV005300534 benign not provided criteria provided, single submitter not provided

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