ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.478T>A (p.Ter160Arg) (rs1555187655)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545709 SCV000640168 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2017-01-20 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the SDHD mRNA. It is expected to extend the length of the SDHD protein by 3 additional amino acid residues. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an SDHD-related disease. Experimental studies have not been published for this variant and the effect of this extension on protein function is unknown. An experimental study for a different variant (c.479G>T) resulting in a similar protein extension has been suggested to result in a complex II assembly defect in vitro (PMID: 24367056). However, the clinical significance of this finding is unclear. In summary, this is a novel stop loss variant with an uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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