ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1013C>T (p.Ala338Val)

dbSNP: rs2148329260
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227378 SCV002506288 uncertain significance not provided 2022-02-02 criteria provided, single submitter clinical testing The G6PD c.1013C>T; p.Ala338Val variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The alanine at codon 338 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.685). Due to limited information, the clinical significance of the p.Ala338Val variant is uncertain at this time.

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