ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.415C>T (p.Leu139Phe) (rs397516834)

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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 RCV000565686 SCV000675090 likely pathogenic Hereditary cancer-predisposing syndrome 2017-08-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037720 SCV000061382 uncertain significance not specified 2013-01-29 criteria provided, single submitter clinical testing The Leu139Phe variant in SDHB has not been previously identified in the literatu re or by our laboratory. This variant has not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/), though it may be common in other populations. Computational analyses (biochemical amino acid properties, conserva tion, AlignGVGD, PolyPhen2, and SIFT) suggest that the Leu139Phe variant may imp act the protein, though this information is not predictive enough to determine p athogenicity. In summary, additional information is needed to fully assess the c linical significance of the Leu139Phe variant.

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