ClinVar Miner

Submissions for variant NM_017841.2(SDHAF2):c.347G>A (p.Trp116Ter) (rs876658350)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213784 SCV000273455 likely pathogenic Hereditary cancer-predisposing syndrome 2015-10-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Invitae RCV000689934 SCV000817604 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2018-03-02 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHAF2 gene (p.Trp116*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 51 amino acids of the SDHAF2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHAF2-related disease. ClinVar contains an entry for this variant (Variation ID: 230045). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. 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.

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