ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.400T>C (p.Tyr134His)

dbSNP: rs1230140208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Uitto Lab, Thomas Jefferson University RCV000782403 SCV000920924 likely pathogenic Autosomal recessive congenital ichthyosis 1 2018-06-08 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV000782403 SCV002058651 pathogenic Autosomal recessive congenital ichthyosis 1 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with TGM1 related disorder (ClinVar ID: VCV000633817, PMID:30578701, PS1_S). A different missense change at the same codon (p.Tyr134Cys) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000551268, PMID:18948357, PM5_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.647, PP3_P). Missense changes are a common disease-causing mechanism (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Genome-Nilou Lab RCV000782403 SCV002764040 likely pathogenic Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing

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