ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.2666A>G (p.Lys889Arg)

gnomAD frequency: 0.00003  dbSNP: rs1369884955
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554761 SCV000659117 likely benign RASopathy 2024-01-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821655 SCV002065435 uncertain significance not specified 2021-06-28 criteria provided, single submitter clinical testing DNA sequence analysis of the CBL gene demonstrated a sequence change, c.2666A>G, in exon 16 that results in an amino acid change, p.Lys889Arg. This sequence change has been described in the gnomAD database with a frequency of 0.0062% in the African/African American subpopulation (dbSNP rs1369884955). The p.Lys889Arg change affects a moderately conserved amino acid residue located in a domain of the CBL protein that is known to be functional. The p.Lys889Arg substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). This sequence change does not appear to have been previously described in individuals with CBL-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Lys889Arg change remains unknown at this time.
Ambry Genetics RCV002431721 SCV002743837 uncertain significance Cardiovascular phenotype 2024-12-03 criteria provided, single submitter clinical testing The p.K889R variant (also known as c.2666A>G), located in coding exon 16 of the CBL gene, results from an A to G substitution at nucleotide position 2666. The lysine at codon 889 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003144380 SCV003829272 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing

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