ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.286_296del (p.Tyr96fs)

dbSNP: rs2152326471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380617 SCV001578742 pathogenic not provided 2020-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALDH3A2 are known to be pathogenic (PMID: 10577908, 10854114). This variant has been observed in individual(s) with Sjögren–Larsson syndrome (PMID: 10577908, 15241804). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr96Thrfs*39) in the ALDH3A2 gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV005014522 SCV005644794 pathogenic Sjögren-Larsson syndrome 2024-04-30 criteria provided, single submitter clinical testing

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