ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2309G>A (p.Arg770Gln)

dbSNP: rs377767414
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041258 SCV001204861 uncertain significance Multiple endocrine neoplasia, type 2 2021-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 770 of the RET protein (p.Arg770Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with medullary thyroid carcinoma (PMID: 20013610). ClinVar contains an entry for this variant (Variation ID: 24936). 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: "Tolerated"; PolyPhen-2: "Possibly 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.

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