ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu)

dbSNP: rs1010078101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437687 SCV000516605 pathogenic not provided 2015-04-15 criteria provided, single submitter clinical testing The G401E missense variant in the ALDH3A2 gene has been reported previously as a homozygousvariant in a patient diagnosed with a severe form of Sjögren-Larsson syndrome (Nakano et al., 2008). We interpret this variant as pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003387841 SCV004099758 uncertain significance not specified 2023-09-12 criteria provided, single submitter clinical testing Variant summary: ALDH3A2 c.1202G>A (p.Gly401Glu) results in a non-conservative amino acid change located in the Aldehyde dehydrogenase domain (IPR015590) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251450 control chromosomes. c.1202G>A has been reported in the literature in an individual affected with Sjogren-Larsson Syndrome (Nakano_2008). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 18684595). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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