Submissions for variant NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002588121	SCV003489891	uncertain significance	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2023-08-10	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 142 of the G6PD protein (p.Leu142Val). This variant has not been reported in the literature in individuals affected with G6PD-related conditions. 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 expected to disrupt G6PD protein function. ClinVar contains an entry for this variant (Variation ID: 2174752).
PreventionGenetics, part of Exact Sciences	RCV003898817	SCV004716568	uncertain significance	G6PD-related disorder	2024-02-21	no assertion criteria provided	clinical testing	The G6PD c.424T>G variant is predicted to result in the amino acid substitution p.Leu142Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.