ClinVar Miner

Submissions for variant NM_020975.6(RET):c.3314C>T (p.Ala1105Val) (rs532862288)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662469 SCV000784959 uncertain significance Multiple endocrine neoplasia, type 2a 2017-02-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763652 SCV000894532 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 RCV000463602 SCV000543794 uncertain significance Multiple endocrine neoplasia, type 2 2018-03-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1105 of the RET protein (p.Ala1105Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs532862288, ExAC 0.02%). This variant has been reported in an individual affected with congenital anomalies of the kidney or urinary tract (PMID: 22729463). ClinVar contains an entry for this variant (Variation ID: 201136). Experimental studies have shown that this missense change does not significantly affect the induction of MAPK activity when compared to wild-type RET (PMID: 22729463). 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000456051 SCV000540179 uncertain significance not specified 2016-10-27 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is classidied as DM? in HGMD, related to urinary tract malformation. It is classified in ClinVar with 1 star as likely path by GeneDx, though their evidence provided does not support this classification. The Max MAF in ExAC is 0.02% (2/11578 Latino chrs).
Mendelics RCV000662469 SCV000838411 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing

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