ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1096del (p.His366fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309512 SCV002603890 likely pathogenic Sjögren-Larsson syndrome 2022-04-02 criteria provided, single submitter clinical testing NM_000382.2(ALDH3A2):c.1096delC(H366Ifs*9) is expected to be pathogenic in the context of Sjogren-Larsson syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ALDH3A2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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