ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.405+1G>A (rs587776653)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201884 SCV001372975 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2019-08-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in the last intron (intron 5) of the SDHC gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with paraganglioma and/or gastrointestinal stromal tumors (PMID: 17667967, 26173966, 24402737, 12658451, 21173220). ClinVar contains an entry for this variant (Variation ID: 7244). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 17667967). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000007666 SCV000027867 pathogenic Carney-Stratakis syndrome 2011-01-04 no assertion criteria provided literature only
OMIM RCV000023194 SCV000044485 pathogenic Gastrointestinal stromal tumor 2011-01-04 no assertion criteria provided literature only
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development RCV000170333 SCV000222642 likely pathogenic Carney triad no assertion criteria provided clinical testing
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505371 SCV000599551 likely pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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