ClinVar Miner

Submissions for variant NM_020975.6(RET):c.972G>C (p.Trp324Cys) (rs758298916)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167906 SCV000218554 uncertain significance Multiple endocrine neoplasia, type 2 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 324 of the RET protein (p.Trp324Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is present in population databases (rs758298916, ExAC 0.006%). This variant has been reported in the literature in an individual affected with Hirschsprung disease (PMID: 11955539). ClinVar contains an entry for this variant (Variation ID: 188078). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Counsyl RCV000409785 SCV000490073 uncertain significance Multiple endocrine neoplasia, type 2b 2016-10-27 criteria provided, single submitter clinical testing
Counsyl RCV000410975 SCV000490074 uncertain significance Multiple endocrine neoplasia, type 2a 2016-10-27 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994377 SCV001147864 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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