ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) (rs878854594)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226232 SCV000287826 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2020-09-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHD gene (p.Gln121*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 39 amino acids of the SDHD protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with pheochromocytoma (PMID: 12000816). While functional studies have not been performed to test the effects of this particular variant, a missense substitution (p.Leu139Pro) and a different truncation downstream of this variant (p.Ser132Glnfs*3), have been determined to be pathogenic (PMID: 21348866, 11391798, Invitae database). This suggests that deletion of these amino acid residues likely will disrupt SDHD function. For these reasons, this variant has been classified as Pathogenic.

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