ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2222C>T (p.Ala741Val)

gnomAD frequency: 0.00001  dbSNP: rs763213265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681187 SCV000808645 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CBL gene. The A741V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A741V variant is observed in 2/24014 (0.008%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The A741V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000706542 SCV000835599 likely benign RASopathy 2023-06-30 criteria provided, single submitter clinical testing

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