ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)

dbSNP: rs1553177290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565392 SCV000664540 likely pathogenic Hereditary cancer-predisposing syndrome 2017-02-09 criteria provided, single submitter clinical testing The p.W218S variant (also known as c.653G>C), located in coding exon 7 of the SDHB gene, results from a G to C substitution at nucleotide position 653. The tryptophan at codon 218 is replaced by serine, an amino acid with highly dissimilar properties. This alteration was detected in two relatives, a mother and daughter, who were both diagnosed with a paraganglioma (Bayley JP et al. BMC Med. Genet., 2006 Jan;7:1). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Furthermore, our structural analysis indicates that the variant is located in a key, sensitive region and likely to destabilize the protein structure. Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529887 SCV001744135 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529887 SCV001928166 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529887 SCV001959447 pathogenic not provided no assertion criteria provided clinical testing

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