ClinVar Miner

Submissions for variant NM_000382.2(ALDH3A2):c.574dupA (p.Ile192Asnfs) (rs772967175)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409660 SCV000486164 likely pathogenic Sjögren-Larsson syndrome 2016-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000290744 SCV000330594 pathogenic not provided 2016-06-14 criteria provided, single submitter clinical testing To our knowledge, the c.574dupA pathogenic variant in the ALDH3A2 gene has not been reported previously as a pathogenic variant nor as a benign variant. It causes a frameshift starting with codon Isoleucine 192, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.p.Ile192AsnfsX16. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, the c.574dupA variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.574dupA as a pathogenic variant.

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