ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) (rs1131691065)

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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 RCV000492092 SCV000581228 pathogenic Hereditary cancer-predisposing syndrome 2015-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Last nucleotide of exon
Invitae RCV000806582 SCV000946587 pathogenic Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2018-09-06 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHD gene (p.Trp105*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acids of the SDHD protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with paragangliomas (PMID: 23512077). ClinVar contains an entry for this variant (Variation ID: 428939). A different truncation (p.Gln121*) that lies downstream of this variant has been determined to be pathogenic (PMID: 12000816, Invitae). This suggests that deletion of this region of the SDHD protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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