ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2432C>G (p.Ser811Cys)

dbSNP: rs587778657
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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 RCV000221652 SCV000277012 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-27 criteria provided, single submitter clinical testing The p.S811C variant (also known as c.2432C>G), located in coding exon 14 of the RET gene, results from a C to G substitution at nucleotide position 2432. The serine at codon 811 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence for this variant is limited at this time, the clinical significance of this alteration remains unclear.
Mendelics RCV000709122 SCV000838402 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000808281 SCV000948383 uncertain significance Multiple endocrine neoplasia, type 2 2023-08-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 135179). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 811 of the RET protein (p.Ser811Cys).
ITMI RCV000121981 SCV000086191 not provided not specified 2013-09-19 no assertion provided reference population

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