ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) (rs756465544)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162457 SCV000212813 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Counsyl RCV000409584 SCV000489741 uncertain significance Multiple endocrine neoplasia, type 2b 2015-11-24 criteria provided, single submitter clinical testing
Counsyl RCV000411142 SCV000489742 uncertain significance Multiple endocrine neoplasia, type 2a 2015-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339922 SCV000362388 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401667 SCV000362389 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304884 SCV000362390 uncertain significance Renal adysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343184 SCV000362391 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000168316 SCV000219001 uncertain significance Multiple endocrine neoplasia, type 2 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1085 of the RET protein (p.Thr1085Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs756465544, 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: 183744). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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