ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2432C>G (p.Ser811Cys) (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 Insufficient or conflicting evidence
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 2019-06-18 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 811 of the RET protein (p.Ser811Cys). 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 RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 135179). 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"). 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.
ITMI RCV000121981 SCV000086191 not provided not specified 2013-09-19 no assertion provided reference population

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