ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3091G>A (p.Asp1031Asn) (rs200989078)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654550 SCV000776444 uncertain significance Multiple endocrine neoplasia, type 2 2017-12-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1031 of the RET protein (p.Asp1031Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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.
Mendelics RCV000988350 SCV001138036 uncertain significance Multiple endocrine neoplasia, type 2a 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018560 SCV001179814 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-16 criteria provided, single submitter clinical testing Insufficient evidence

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