ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3176A>G (p.Asn1059Ser) (rs772395752)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000663319 SCV000786589 uncertain significance Multiple endocrine neoplasia, type 2a 2018-05-31 criteria provided, single submitter clinical testing
Invitae RCV000691242 SCV000818992 uncertain significance Multiple endocrine neoplasia, type 2 2019-09-30 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1059 of the RET protein (p.Asn1059Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Hirschsprung disease (PMID: 15744028). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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