ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.147dup (p.His50fs) (rs876659130)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217241 SCV000275225 pathogenic Hereditary cancer-predisposing syndrome 2017-09-20 criteria provided, single submitter clinical testing The c.147dupA pathogenic mutation, located in coding exon 2 of the SDHD gene, results from a duplication of A at position 147, causing a translational frameshift with a predicted alternate stop codon (p.H50Tfs*19). This mutation has been reported in an individual with hereditary paraganglioma (Astrom K et al. Hum Genet. 2003 Aug;113(3):228-37). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV001051582 SCV001215744 pathogenic Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His50Thrfs*19) 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 in individual(s) with paraganglioma-pheochromocytoma syndromes (PMID: 12811540, 16314641). This variant is also known as c.147_148insA and c.148_149insA in the literature. ClinVar contains an entry for this variant (Variation ID: 231390). Loss-of-function variants in SDHD are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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