ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.194T>C (p.Leu65Pro) (rs876659329)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458678 SCV000553987 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-08-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 65 of the SDHB protein (p.Leu65Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with adrenal and extra-adrenal pheochromocytoma and an individual with papillary thyroid carcinoma (PTC) from the same family (PMID: 15328326), though germline SDHB variants are not a well-established cause of PTC (PMID: 20301715). This variant is also referred to as 328 T/C in the literature. ClinVar contains an entry for this variant (Variation ID: 412457). This variant has been reported to affect SDHB protein function (PMID: 22835832). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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