ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.681-14T>G

dbSNP: rs1400349287
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521423 SCV000617641 likely pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing The c.681-14 T>G splice site variant has been previously reported in association with Sjögren-Larsson syndrome (Burgueño-Montañés et al., 2014). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant occurs at a nucleotide that is not conserved; however, several in-silico splice prediction models predict that c.681-14 T>G reduces the strength of the splice acceptor site of intron 4. Additionally, another variant at the same nucleotide has been reported in the Human Gene Mutation Database in association with Sjoegren-Larsson syndrome (Stenson et al., 2014). In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. In summary, we consider this variant to be likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000521423 SCV003441681 uncertain significance not provided 2022-04-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 449458). This variant has been observed in individual(s) with Sjögren–Larsson syndrome (PMID: 24377952). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change falls in intron 4 of the ALDH3A2 gene. It does not directly change the encoded amino acid sequence of the ALDH3A2 protein.

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