ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2385C>A (p.Ser795Arg)

dbSNP: rs2132932061
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003531557 SCV004294357 uncertain significance Multiple endocrine neoplasia, type 2 2023-03-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 795 of the RET protein (p.Ser795Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Hirschsprung disease (PMID: 10646792). 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.

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