ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.605dup (p.Asn202fs) (rs1131691053)

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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 RCV000492713 SCV000581199 pathogenic Hereditary cancer-predisposing syndrome 2013-06-17 criteria provided, single submitter clinical testing ​The c.605dupA pathogenic mutation, located in coding exon 6 of the SDHB gene, results from a duplication of A at position 605, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV001036821 SCV001200204 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn202Lysfs*20) in the SDHB 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 not been reported in the literature in individuals with SDHB-related conditions. ClinVar contains an entry for this variant (Variation ID: 428922). Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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