ClinVar Miner

Submissions for variant NM_001025389.1(AMPD3):c.1717C>T (p.Arg573Cys) (rs3741040)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000019932 SCV000366945 pathogenic Erythrocyte AMP deaminase deficiency 2017-04-27 criteria provided, single submitter clinical testing The AMPD3 c.1717C>T (p.Arg573Cys) missense variant has been reported in two studies in which it is found in a total of 51 Japanese individuals with erythrocyte AMP deaminase deficiency, including in four homozygotes with a complete deficiency and in 47 heterozygotes with a partial deficiency (Yamada et al. 1994a; Yamada et al. 1994b). The variant was absent from over 2500 controls but is reported at a frequency of 0.00416 in the East Asian population of the Exome Aggregation Consortium. Functional studies by Yamada et al. (1994a) showed that the p.Arg573Cys variant results in a catalytically inactive but stable peptide. Based on the evidence the p.Arg573Cys variant is classified as pathogenic for erythrocyte AMP deaminase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000019932 SCV000040230 affects Erythrocyte AMP deaminase deficiency 1994-12-01 no assertion criteria provided literature only

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