ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.799G>T (p.Glu267Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263979 SCV001442077 likely pathogenic Sjögren-Larsson syndrome 2019-02-24 criteria provided, single submitter clinical testing
Invitae RCV003770372 SCV004666292 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 983974). This variant has not been reported in the literature in individuals affected with ALDH3A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu267*) in the ALDH3A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDH3A2 are known to be pathogenic (PMID: 10577908, 10854114).

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