ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3138_3139delinsTT (p.Pro1047Ser)

dbSNP: rs1838338388
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316238 SCV001506845 uncertain significance Multiple endocrine neoplasia, type 2 2023-11-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1047 of the RET protein (p.Pro1047Ser). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 1017129). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change does not substantially affect RET function (PMID: 29665843). 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 RCV002322227 SCV002610595 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-15 criteria provided, single submitter clinical testing The c.3138_3139delCCinsTT variant (also known as p.P1047S), located in coding exon 19 of the RET gene, results from an in-frame deletion of CC and insertion of TT at nucleotide positions 3138 to 3139. This results in the substitution of the proline residue for a serine residue at codon 1047, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.
Athena Diagnostics RCV004998814 SCV005620474 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing

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