ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.802A>T (p.Lys268Ter) (rs1060503755)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473417 SCV000553992 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-10-24 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHB gene (p.Lys268*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 13 amino acids of the SDHB protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHB-related disease. ClinVar contains an entry for this variant (Variation ID: 412460). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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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