ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1137del (p.Ser380fs)

dbSNP: rs2152331147
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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 RCV001898868 SCV002175821 pathogenic not provided 2021-06-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ALDH3A2-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser380Valfs*48) 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).
Fulgent Genetics, Fulgent Genetics RCV005016797 SCV005644805 likely pathogenic Sjögren-Larsson syndrome 2024-04-19 criteria provided, single submitter clinical testing

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