ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.218dup (p.Arg74fs)

dbSNP: rs765536522
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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 RCV001940010 SCV002182120 pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg74Glnfs*7) in the CSF3R gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CSF3R are known to be pathogenic (PMID: 24753537, 26324699). This variant is present in population databases (rs765536522, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CSF3R-related conditions. ClinVar contains an entry for this variant (Variation ID: 1410136). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003892946 SCV004711826 likely pathogenic CSF3R-related disorder 2023-12-04 no assertion criteria provided clinical testing The CSF3R c.218dupG variant is predicted to result in a frameshift and premature protein termination (p.Arg74Glnfs*7). To our knowledge, this variant has not been reported in the literature. It is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Frameshift variants in CSF3R are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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