ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.988GAA[1] (p.Glu331del)

dbSNP: rs746747637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667906 SCV000792430 uncertain significance Sjögren-Larsson syndrome 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV001868219 SCV002270757 uncertain significance not provided 2021-10-22 criteria provided, single submitter clinical testing This variant, c.991_993del, results in the deletion of 1 amino acid(s) of the ALDH3A2 protein (p.Glu331del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746747637, ExAC 0.009%). This variant has been observed in individual(s) with Sjogren-Larsson syndrome (PMID: 21968182). ClinVar contains an entry for this variant (Variation ID: 552611). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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