ClinVar Miner

Submissions for variant NM_003748.4(ALDH4A1):c.1137C>T (p.Asp379=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210565 SCV001382059 uncertain significance Deficiency of pyrroline-5-carboxylate reductase 2019-08-07 criteria provided, single submitter clinical testing This sequence change affects codon 379 of the ALDH4A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALDH4A1 protein. This variant is present in population databases (rs140704780, ExAC 0.1%). This variant has not been reported in the literature in individuals with ALDH4A1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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