ClinVar Miner

Submissions for variant NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro)

dbSNP: rs775554571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329057 SCV001520358 uncertain significance TFRC-related combined immunodeficiency 2019-08-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546299 SCV003468713 uncertain significance not provided 2023-07-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 155 of the TFRC protein (p.Arg155Pro). This variant is present in population databases (rs775554571, gnomAD 0.0009%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TFRC protein function. ClinVar contains an entry for this variant (Variation ID: 1028098). This variant has not been reported in the literature in individuals affected with TFRC-related conditions.

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