ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.798+1_798+6del

gnomAD frequency: 0.00001  dbSNP: rs1057517352
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412363 SCV000487148 likely pathogenic Sjögren-Larsson syndrome 2016-10-12 criteria provided, single submitter clinical testing
Invitae RCV000804821 SCV000944753 pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ALDH3A2 protein in which other variant(s) (p.Cys237Tyr) have been determined to be pathogenic (PMID: 10577908, 16903323, 20049467). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Studies have shown that disruption of this splice site results in skipping of exons 4-5, but is expected to preserve the integrity of the reading-frame (PMID: 10577908). ClinVar contains an entry for this variant (Variation ID: 371540). Disruption of this splice site has been observed in individual(s) with Sjogren-Larsson syndrome (PMID: 10577908). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects a splice site in intron 5 of the ALDH3A2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product.
Natera, Inc. RCV000412363 SCV002093181 pathogenic Sjögren-Larsson syndrome 2020-11-28 no assertion criteria provided clinical testing

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