ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.541G>A (p.Val181Met)

gnomAD frequency: 0.00001  dbSNP: rs778143033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807951 SCV002058265 uncertain significance Autosomal recessive congenital ichthyosis 1 2022-01-03 criteria provided, single submitter clinical testing The variant observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000012, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.661, 3CNET: 0.889, PP3_P). Missense changes are a common disease-causing mechanism (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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