ClinVar Miner

Submissions for variant NM_000476.3(AK1):c.301C>A (p.Gln101Lys)

dbSNP: rs2131401746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Haematogenetics, ICMR National Institute of Immunohaematology RCV001526690 SCV001653522 pathogenic Adenylate kinase deficiency 2021-04-01 criteria provided, single submitter clinical testing A homozygous missense variation in exon 5 of the AK1 gene and one Indian families has chronic nonspherocytic hemolytic anemia (CNSHA) and severe red blood cell (RBC) adenylate kinase (AK) deficiency that results from the amino acid substitution of Lysine for Glutamine at codon 101 (p.Gln101Lys; ENST00000373176.1) was detected. The p.Gln101Lys variant has not been reported in the 1000 genomes, ExAC and our internal databases. The in silico predictions# of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. In summary, the p.Gln101Lys variant meets our criteria to be classified as pathogenic
Department of Haematogenetics, ICMR National Institute of Immunohaematology RCV001506969 SCV001654247 pathogenic Hemolytic anemia due to adenylate kinase deficiency no assertion criteria provided research

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