ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.299C>G (p.Ser100Cys) (rs121917755)

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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 RCV000566270 SCV000675070 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
CSER_CC_NCGL; University of Washington Medical Center RCV000590918 SCV000700144 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No history of paraganglioma or pheochromocytoma. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Invitae RCV000687053 SCV000814604 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 100 of the SDHB protein (p.Ser100Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. 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 disease. ClinVar contains an entry for this variant (Variation ID: 486417). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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