ClinVar Miner

Submissions for variant NM_000395.3(CSF2RB):c.587C>A (p.Thr196Asn)

gnomAD frequency: 0.00001  dbSNP: rs748941609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001995549 SCV002275357 uncertain significance not provided 2024-06-29 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 196 of the CSF2RB protein (p.Thr196Asn). This variant is present in population databases (rs748941609, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CSF2RB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1482263). 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 CSF2RB protein function with a negative predictive value of 80%. 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224604 SCV003919855 uncertain significance Surfactant metabolism dysfunction, pulmonary, 5 2022-10-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF: 0.1% [40/34578]; https://gnomad.broadinstitute.org/variant/22-37325718-C-A?dataset=gnomad_r2_1), and in ClinVar (Variation ID: 1482263). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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