ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val)

gnomAD frequency: 0.00003  dbSNP: rs372972496
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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 RCV001938164 SCV002191928 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-11-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 832 of the CSF3R protein (p.Ala832Val). This variant is present in population databases (rs372972496, gnomAD 0.009%). 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: 1417106). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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