ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)

dbSNP: rs571045498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813650 SCV002060751 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542451 SCV003467932 likely benign RASopathy 2023-08-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004996017 SCV005545754 uncertain significance Cardiovascular phenotype 2024-11-28 criteria provided, single submitter clinical testing The p.S642N variant (also known as c.1925G>A), located in coding exon 11 of the CBL gene, results from a G to A substitution at nucleotide position 1925. The serine at codon 642 is replaced by asparagine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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