Submissions for variant NM_002185.5(IL7R):c.1252C>G (p.Pro418Ala)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002942563	SCV003271823	uncertain significance	Immunodeficiency 104	2022-06-13	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 418 of the IL7R protein (p.Pro418Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IL7R-related conditions. 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 IL7R protein function. 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	RCV002942562	SCV003745747	uncertain significance	Inborn genetic diseases	2022-12-14	criteria provided, single submitter	clinical testing	The c.1252C>G (p.P418A) alteration is located in exon 8 (coding exon 8) of the IL7R gene. This alteration results from a C to G substitution at nucleotide position 1252, causing the proline (P) at amino acid position 418 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.