ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) (rs387906314)

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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 RCV000004211 SCV000915377 likely pathogenic Deficiency of pyrroline-5-carboxylate reductase 2018-12-18 criteria provided, single submitter clinical testing The ALDH4A1 c.21delG (p.Leu8SerfsTer23) variant results in a frameshift and is predicted to cause a truncation of the protein. The p.Leu8SerfsTer23 variant has been reported in one study in which it is found in a total of two individuals with hyperprolinemia including in one in a homozygous state and in one in a compound heterozygous state with a second missense variant (Geraghty et al. 1998). Control data are unavailable for this variant, which is reported at a frequency of 0.000058 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the evidence and the potential impact of frameshift variants, the p.Leu8SerfsTer23 variant is classified as likely pathogenic for hyperprolinemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000004211 SCV000024377 pathogenic Deficiency of pyrroline-5-carboxylate reductase 1998-09-01 no assertion criteria provided literature only

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