ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.591del (p.Ser198fs) (rs1060503757)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473527 SCV000553995 pathogenic Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-03-28 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 6 of the SDHB mRNA (c.591delC), causing a frameshift at codon 198. This creates a premature translational stop signal (p.Ser198Alafs*22) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19802898, 19454582). This variant has been identified in individuals with SDHB-related hereditary paraganglioma-pheochromocytoma syndrome (PMID: 22517554, 19454582, 23072324, 16314641, 16317055). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000561023 SCV000664522 pathogenic Hereditary cancer-predisposing syndrome 2016-11-14 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Mendelics RCV000708783 SCV000837731 pathogenic Cowden syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000986261 SCV001135200 pathogenic Gastrointestinal stroma tumor 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000013618 SCV000033865 pathogenic Pheochromocytoma 2001-07-01 no assertion criteria provided literature only

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