ClinVar Miner

Submissions for variant NM_020975.6(RET):c.1832_1833delinsAT (p.Cys611Tyr)

dbSNP: rs377767398
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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 RCV003062257 SCV003441426 pathogenic Multiple endocrine neoplasia, type 2 2022-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects RET function (PMID: 9230192). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This missense change has been observed in individual(s) with pheochromocytoma or multiple endocrine neoplasia type 2 (PMID: 8557249, 11395220, 25720320, 28099363). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 611 of the RET protein (p.Cys611Tyr).

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