ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.21-3_22del (rs1553261757)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000612576 SCV000731505 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes 2017-04-03 criteria provided, single submitter clinical testing The c.21-3_22del variant in SDHC has not been previously reported in individuals with SDHC-related cancers (hereditary paraganglioma-pheochromocytoma syndrome) and was absent from large population studies. This variant is a deletion that sp ans the invariant region (+/- 1,2) of the splice consensus sequence and is predi cted to cause altered splicing leading to an abnormal or absent protein. A signi ficant fraction of pathogenic SDHC variants are loss of function and splice vari ants, suggesting that the c.21-3_22del variant is disease causing. In summary, a lthough additional studies are required to fully establish its clinical signific ance, the c.21-3_22del variant is likely pathogenic.

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