ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.455C>T (p.Ser152Phe) (rs200414835)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572596 SCV000664481 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Fulgent Genetics,Fulgent Genetics RCV000763772 SCV000894674 uncertain significance Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000459898 SCV000554039 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 152 of the SDHB protein (p.Ser152Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs200414835, ExAC 0.07%). This variant has been reported in an individual with a head and neck paraganglioma (PMID: 26269449). ClinVar contains an entry for this variant (Variation ID: 412492). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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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