ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.336dup (p.Asp113Ter)

dbSNP: rs1555187583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660263 SCV000782287 pathogenic Paragangliomas 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002530564 SCV003440471 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3 2022-07-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SDHD protein in which other variant(s) (p.Leu139Arg) have been determined to be pathogenic (PMID: 11343322, 15032977, 15328326; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 547770). This variant is also known as 13732insT. This premature translational stop signal has been observed in individual(s) with paraganglioma (PMID: 11343322). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp113*) in the SDHD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acid(s) of the SDHD protein.

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