ClinVar Miner

Submissions for variant NM_000175.5(GPI):c.16C>T (p.Arg6Trp)

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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 RCV003628104 SCV004564473 uncertain significance Hemolytic anemia due to glucophosphate isomerase deficiency 2023-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004985586 SCV005596663 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.16C>T (p.R6W) alteration is located in exon 1 (coding exon 1) of the GPI gene. This alteration results from a C to T substitution at nucleotide position 16, causing the arginine (R) at amino acid position 6 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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