ClinVar Miner

Submissions for variant NM_020975.6(RET):c.842C>G (p.Ala281Gly)

dbSNP: rs745642574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216177 SCV001387957 uncertain significance Multiple endocrine neoplasia, type 2 2019-06-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RET-related conditions. This sequence change replaces alanine with glycine at codon 281 of the RET protein (p.Ala281Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine.
Ambry Genetics RCV004033989 SCV005028320 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-06 criteria provided, single submitter clinical testing The p.A281G variant (also known as c.842C>G), located in coding exon 4 of the RET gene, results from a C to G substitution at nucleotide position 842. The alanine at codon 281 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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