ClinVar Miner

Submissions for variant NM_020975.6(RET):c.2225C>T (p.Thr742Met) (rs773256580)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167451 SCV000218307 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000409277 SCV000489875 uncertain significance Multiple endocrine neoplasia, type 2b 2016-06-21 criteria provided, single submitter clinical testing
Counsyl RCV000409934 SCV000489876 uncertain significance Multiple endocrine neoplasia, type 2a 2016-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764899 SCV000896059 uncertain significance Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000654567 SCV000776461 uncertain significance Multiple endocrine neoplasia, type 2 2018-10-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 742 of the RET protein (p.Thr742Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs773256580, ExAC 0.004%). This variant has not been reported in the literature in individuals with RET-related disease. ClinVar contains an entry for this variant (Variation ID: 187701). 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: "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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