ClinVar Miner

Submissions for variant NM_172245.4(CSF2RA):c.794G>C (p.Gly265Ala)

gnomAD frequency: 0.00001  dbSNP: rs775114336
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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 RCV001366043 SCV001562331 uncertain significance Surfactant metabolism dysfunction, pulmonary, 4 2020-07-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CSF2RA-related conditions. This variant is present in population databases (no rsID available, ExAC 0.001%). This sequence change replaces glycine with alanine at codon 265 of the CSF2RA protein (p.Gly265Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine.

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