ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412337 SCV000486581 likely pathogenic Sjögren-Larsson syndrome 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000791516 SCV000930768 pathogenic not provided 2018-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg9Alafs*36) in the ALDH3A2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed to segregate with Sjögren-Larsson syndrome in a family (PMID: 29183715). ClinVar contains an entry for this variant (Variation ID: 371103). Loss-of-function variants in ALDH3A2 are known to be pathogenic (PMID: 10577908, 10854114). For these reasons, this variant has been classified as Pathogenic.
Rizzo Lab,University of Nebraska Medical Center RCV000412337 SCV000598619 pathogenic Sjögren-Larsson syndrome 2017-06-01 no assertion criteria provided research

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