ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.344dup (p.Asp116fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474094 SCV004203800 pathogenic Autosomal recessive congenital ichthyosis 1 2023-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004731538 SCV005336882 pathogenic TGM1-related disorder 2024-06-15 no assertion criteria provided clinical testing The TGM1 c.344dupT variant is predicted to result in a frameshift and premature protein termination (p.Asp116Glyfs*20). This variant has been reported in a cohort of individuals with autosomal recessive congenital ichthyosis (reported as c.343insT in Farasat et al. 2009. PubMed ID: 18948357). This variant has not been reported in a large population database, indicating this variant is rare. Frameshift variants in TGM1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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