ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)

gnomAD frequency: 0.00001  dbSNP: rs867206631
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297527 SCV001486551 uncertain significance Multiple endocrine neoplasia, type 2 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1042 of the RET protein (p.Asp1042Asn). This variant is present in population databases (no rsID available, gnomAD 0.06%). 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: 1001262). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Fulgent Genetics, Fulgent Genetics RCV002493565 SCV002800950 uncertain significance Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 2021-11-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462858 SCV004208640 uncertain significance Hirschsprung disease, susceptibility to, 1 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004944969 SCV005491003 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-21 criteria provided, single submitter clinical testing The p.D1042N variant (also known as c.3124G>A), located in coding exon 19 of the RET gene, results from a G to A substitution at nucleotide position 3124. The aspartic acid at codon 1042 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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