ClinVar Miner

Submissions for variant NM_005188.2:c.1227+2_1227+3delTACinsAAG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157872 SCV000207802 pathogenic Rasopathy 2013-01-21 criteria provided, single submitter clinical testing This mutation is denoted c.1227+2_c.1227+4delinsAAG at the protein level. Using uppercase letters to denote exonic sequence and lowercase letters to denote intronic sequence, the normal sequence with the bases that are deleted in braces and the bases that are inserted in brackets is: CAGg{tac}[aag]ggat (NM_005188.2). The c.1227+2_c.1227+4delinsAAG mutation in exon 8 of the CBL gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. This mutation is predicted to destroy the canonical splice donor site of intron 8 in the CBL gene. Splicing mutations in CBL in the homozygous state due to uniparental disomy or somatic loss of heterozygousity (LOH) have been reported in association with juvenile myelomonocytic leukemia (JMML) (Loh et al., 2009). We interpret c.1227+2_c.1227+4delinsAAG as a disease-causing mutation. The variant is found in NOONAN panel(s).

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