ClinVar Miner

Submissions for variant NM_020975.6(RET):c.139G>A (p.Gly47Ser)

gnomAD frequency: 0.00001  dbSNP: rs529018971
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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 RCV000230397 SCV000290529 uncertain significance Multiple endocrine neoplasia, type 2 2023-05-31 criteria provided, single submitter clinical testing 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 tolerated. 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. ClinVar contains an entry for this variant (Variation ID: 241335). This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is present in population databases (rs529018971, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 47 of the RET protein (p.Gly47Ser).
Counsyl RCV000662387 SCV000784791 uncertain significance Multiple endocrine neoplasia type 2A 2016-12-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820759 SCV002069955 uncertain significance not specified 2019-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392716 SCV002701735 likely benign Hereditary cancer-predisposing syndrome 2022-03-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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