ClinVar Miner

Submissions for variant NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys)

gnomAD frequency: 0.00002  dbSNP: rs150281231
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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 RCV001918565 SCV002178541 uncertain significance Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 2024-04-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 787 of the CSF3R protein (p.Tyr787Cys). This variant is present in population databases (rs150281231, gnomAD 0.007%). 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: 1407680). 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 disruptive. 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.
Ambry Genetics RCV003167113 SCV003897420 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.2360A>G (p.Y787C) alteration is located in exon 17 (coding exon 15) of the CSF3R gene. This alteration results from a A to G substitution at nucleotide position 2360, causing the tyrosine (Y) at amino acid position 787 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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