ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.409G>A (p.Gly137Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004174926 SCV003668013 uncertain significance not specified 2021-12-07 criteria provided, single submitter clinical testing The c.409G>A (p.G137R) alteration is located in exon 6 (coding exon 5) of the AK1 gene. This alteration results from a G to A substitution at nucleotide position 409, causing the glycine (G) at amino acid position 137 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003140188 SCV003823090 uncertain significance Hemolytic anemia due to adenylate kinase deficiency 2022-12-12 criteria provided, single submitter clinical testing

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