ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)

gnomAD frequency: 0.00006  dbSNP: rs782174983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000713 SCV001157754 uncertain significance not specified 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV001230731 SCV001403221 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 341 of the G6PD protein (p.Val341Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with G6PD-related conditions. ClinVar contains an entry for this variant (Variation ID: 811090). 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. 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.

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