ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.381del (p.Leu128fs) (rs1555187601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219613 SCV001391561 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 2019-07-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHD gene (p.Leu128Phefs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acids of the SDHD protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with head and neck paragangliomas (PMID: 11897817). This variant is also known as c.381-383delG (p.L128fsX134) in the literature. ClinVar contains an entry for this variant (Variation ID: 438439). This variant disrupts the C-terminus of the SDHD protein. Other variant(s) that disrupt this region (p.Ser132Glnfs*3) have been determined to be pathogenic (PMID: 21348866). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505276 SCV000599546 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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