ClinVar Miner

Submissions for variant NM_020630.5(RET):c.2611G>A (p.Val871Ile) (rs145170911)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562304 SCV000664502 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034773 SCV000043478 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Counsyl RCV000409480 SCV000489987 uncertain significance Multiple endocrine neoplasia, type 2b 2016-09-07 criteria provided, single submitter clinical testing
Counsyl RCV000410572 SCV000489988 uncertain significance Multiple endocrine neoplasia, type 2a 2016-09-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034773 SCV000113991 uncertain significance not provided 2013-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000515196 SCV000611516 uncertain significance Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Renal adysplasia; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a 2017-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000763649 SCV000894529 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 RCV000123312 SCV000166619 uncertain significance Multiple endocrine neoplasia, type 2 2017-11-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 871 of the RET protein (p.Val871Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs145170911, ExAC 0.04%). This variant has been reported in an individual affected with medullary thyroid carcinoma (PMID: 26034076). ClinVar contains an entry for this variant (Variation ID: 41842). 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: "Deleterious"; 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.
Mendelics RCV000410572 SCV000838405 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing

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