ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)

dbSNP: rs1557229652
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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 RCV001810616 SCV001474450 uncertain significance not provided 2020-08-26 criteria provided, single submitter clinical testing The G6PD c.1278C>G; p.Asn426Lys variant, to our knowledge, is not reported in the medical literature or gene specific databases. The variant is found in the general population with an overall allele frequency of 0.001% (2/183,307 alleles) in the Genome Aggregation Database. The asparagine at codon 426 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Asn426Lys variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV003621594 SCV004528645 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 426 of the G6PD protein (p.Asn426Lys). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 994392). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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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