ClinVar Miner

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

gnomAD frequency: 0.00007  dbSNP: rs387906314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000004211 SCV000915377 likely pathogenic Hyperprolinemia type 2 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.
GeneDx RCV002288462 SCV002578368 likely pathogenic not provided 2022-10-07 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 10971205, 9700195)
OMIM RCV000004211 SCV000024377 pathogenic Hyperprolinemia type 2 1998-09-01 no assertion criteria provided literature only

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