ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.200T>C (p.Met67Thr)

dbSNP: rs1287584713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699006 SCV000827698 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2022-03-27 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 576498). This missense change has been observed in individual(s) with clinical features of SDHC-related conditions (PMID: 30050099). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 67 of the SDHC protein (p.Met67Thr).
Ambry Genetics RCV002422550 SCV002722876 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-12 criteria provided, single submitter clinical testing The p.M67T variant (also known as c.200T>C), located in coding exon 4 of the SDHC gene, results from a T to C substitution at nucleotide position 200. The methionine at codon 67 is replaced by threonine, an amino acid with similar properties. This alteration, identified as a variant of unknown significance, was identified in an individual with a paraganglioma (Richter S et al. Genet. Med., 2019 03;21:705-717). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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