ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2999A>G (p.Asp1000Gly)

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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 RCV002304947 SCV002593440 uncertain significance Multiple endocrine neoplasia, type 2 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1000 of the RET protein (p.Asp1000Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RET-related conditions. ClinVar contains an entry for this variant (Variation ID: 1719396). 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.
Ambry Genetics RCV004673663 SCV005159080 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-21 criteria provided, single submitter clinical testing The p.D1000G variant (also known as c.2999A>G), located in coding exon 18 of the RET gene, results from an A to G substitution at nucleotide position 2999. The aspartic acid at codon 1000 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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