ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter)

gnomAD frequency: 0.00002  dbSNP: rs756203389
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388457 SCV001589456 pathogenic Surfactant metabolism dysfunction, pulmonary, 4 2025-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg28*) in the CSF2RA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CSF2RA are known to be pathogenic (PMID: 20622029, 25425184). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CSF2RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1074981). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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