ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.1489delinsAC (p.Glu497fs)

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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. RCV002308287 SCV002601981 likely pathogenic Autosomal recessive congenital ichthyosis 1 2022-03-14 criteria provided, single submitter clinical testing NM_000359.2(TGM1):c.1489delGinsAC(E497Tfs*4) is expected to be pathogenic in the context of TGM1-related autosomal recessive congenital ichthyosis. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TGM1, 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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