ClinVar Miner

Submissions for variant NM_020975.6(RET):c.372G>C (p.Lys124Asn)

dbSNP: rs2132678369
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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 RCV001955747 SCV002220720 uncertain significance Multiple endocrine neoplasia, type 2 2021-07-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RET-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 124 of the RET protein (p.Lys124Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine.

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