ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) (rs104894305)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821648 SCV000962417 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2019-03-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser32*) in the SDHD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with paraganglioma in one family (PMID: 23433498). ClinVar contains an entry for this variant (Variation ID: 6901). Loss-of-function variants in SDHD are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.
Division of Medical Genetics, University of Washington RCV000007310 SCV001424794 pathogenic Paragangliomas 1 2019-08-01 criteria provided, single submitter clinical testing This variant has been reported in the literature in several patients with paragangliomas (Milunsky 2001). This variant creates a premature termination codon. The variant transcript is predicted to be unstable and degraded by nonsense-mediated decay. Loss of expression of one allele of SDHD is an established mechanism of disease (Burnichon 2009, Ricketts 2010). This variant is not present in population databases (https://gnomad.broadinstitute.org/). Thus, this variant is interpreted as pathogenic.
OMIM RCV000007310 SCV000027507 pathogenic Paragangliomas 1 2001-05-15 no assertion criteria provided literature only
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505384 SCV000599537 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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