ClinVar Miner

Submissions for variant NM_000285.3(PEPD):c.692_694delACT (p.Tyr231del) (rs745834191)

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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 RCV000273249 SCV000411470 likely pathogenic Prolidase deficiency 2017-04-27 criteria provided, single submitter clinical testing The PEPD c.692_694delACT (p.Tyr231del) variant is reported in one study in which it is found in two unrelated Portuguese individuals with prolidase deficiency in a homozygous state (Lupi et al. 2004). Control data are unavailable for this variant which is reported at a frequency of 0.00044 in the European (non-Finnish) population of the Exome Aggregation Consortium. Functional studies in cultured fibroblasts from these two individuals showed significantly decreased prolidase enzyme expression and activity compared to control fibroblasts (Lupi et al. 2004; Besio et al. 2013). Besio et al. (2013) demonstrated the variant resulted in reduced thermal stability, low catalytic efficiency and impaired Mn(II) cofactor binding of PEPD. Based on the evidence, the p.Tyr231del variant is classified as likely pathogenic for prolidase deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000273249 SCV000020378 pathogenic Prolidase deficiency 2004-01-01 no assertion criteria provided literature only

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