ClinVar Miner

Submissions for variant NM_020975.6(RET):c.44_46TGC[8] (p.Leu17_Leu19dup) (rs768132465)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199248 SCV000255057 uncertain significance Multiple endocrine neoplasia, type 2 2015-03-15 criteria provided, single submitter clinical testing This sequence change inserts 9 nucleotides in exon 1 of the RET mRNA (c.43_44insTGCTGCTGC). This leads to the insertion of 3 amino acid residue(s) in the RET protein (p.Leu15_Leu16insLeuLeuLeu) but otherwise preserves the integrity of the reading frame. This variant has not been published in the literature and is not present in population databases. The effect of this variant on the function of the encoded protein is unknown. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597959 SCV000705615 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
Invitae RCV000199248 SCV000776462 uncertain significance Multiple endocrine neoplasia, type 2 2017-12-08 criteria provided, single submitter clinical testing This variant, c.50_58dupTGCTGCTGC, results in the insertion of 3 amino acids to the RET protein (p.Leu17_Leu19dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with RET-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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 RCV000709099 SCV000838364 uncertain significance Multiple endocrine neoplasia, type 2a 2018-07-02 criteria provided, single submitter clinical testing

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