ClinVar Miner

Submissions for variant NM_005188.3(CBL):c.107_109ACC[9] (p.His41_His42dup) (rs373212940)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540192 SCV000659090 uncertain significance Rasopathy 2018-11-25 criteria provided, single submitter clinical testing This sequence change inserts 6 nucleotides in exon 1 of the CBL mRNA (c.122_127dupACCACC). This leads to the insertion of 2 amino acid residues in the CBL protein (p.His41_His42dup) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs373212940) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a CBL-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, this is a rare in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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