ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1711G>A (p.Asp571Asn)

gnomAD frequency: 0.00001  dbSNP: rs750958377
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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 RCV001224329 SCV001396519 uncertain significance Multiple endocrine neoplasia, type 2 2023-12-30 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 571 of the RET protein (p.Asp571Asn). This variant is present in population databases (rs750958377, gnomAD 0.006%). This missense change has been observed in individual(s) with Hirschsprung disease (PMID: 29261189, 34267336). ClinVar contains an entry for this variant (Variation ID: 952258). 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 RCV002402700 SCV002712931 likely benign Hereditary cancer-predisposing syndrome 2023-07-27 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.
All of Us Research Program, National Institutes of Health RCV001224329 SCV004830784 uncertain significance Multiple endocrine neoplasia, type 2 2023-06-28 criteria provided, single submitter clinical testing

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