ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1360A>G (p.Asn454Asp)

gnomAD frequency: 0.00004  dbSNP: rs371850672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000370641 SCV000367761 likely benign Noonan-like syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000593984 SCV000709708 uncertain significance not specified 2018-03-06 criteria provided, single submitter clinical testing Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 2 /126572 Europeans in GnomAd; not in HGMD or google search; likely benign by Illumina in ClinVar, conserved, predicted benign. Identified in 1 individual with HCM.
Labcorp Genetics (formerly Invitae), Labcorp RCV001850605 SCV002292124 uncertain significance RASopathy 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 454 of the CBL protein (p.Asn454Asp). This variant is present in population databases (rs371850672, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CBL-related conditions. ClinVar contains an entry for this variant (Variation ID: 302780). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CBL protein function with a negative predictive value of 95%. 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.

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