ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile)

gnomAD frequency: 0.00002  dbSNP: rs371426547
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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 RCV001907304 SCV002118832 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-03-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 802 of the CSF3R protein (p.Thr802Ile). This variant is present in population databases (rs371426547, gnomAD 0.01%). 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: 1361007). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003481150 SCV004227805 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing BP4

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