ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.2414_2416dup (p.Asp806_Gly807insVal) (rs777761446)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000300042 SCV000367780 uncertain significance Noonan-Like Syndrome Disorder 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000472107 SCV000543489 uncertain significance Rasopathy 2016-08-06 criteria provided, single submitter clinical testing This sequence change inserts 3 nucleotides in exon 15 of the CBL mRNA (c.2414_2416dupTGG). This leads to the insertion of 1 amino acid residue in the CBL protein (p.Leu805_Asp806insVal) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777761446, ExAC 0.03%) but has not been reported in the literature in individuals with a CBL-related disease. In summary, this variant is a rare in-frame insertion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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