ClinVar Miner

Submissions for variant NM_000382.2(ALDH3A2):c.153+5_386-408delins19

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589817 SCV000696647 pathogenic Sjögren-Larsson syndrome 2017-05-01 criteria provided, single submitter clinical testing Variant summary: The ALDH3A2 c.153+5_386-408delins19 (or c.153+5_385+361delins19) leads to large deletion involving intron 1-exon 2-intron 2, completely deleting exon 2 followed by insertion of 19 nucleotides. This variant was found in homozygous state in a consanguineous Turkish patient with SLS, mother confirmed to be carrier of the variant (Rizzo_1999). Functional study showed that this variant result in both deletion of exon 2 and, in exon 3, a frameshift associated with a premature stop codon. Taken together, this variant is classified as pathogenic.

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