ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.184G>T (p.Gly62Ter)

gnomAD frequency: 0.00001  dbSNP: rs886041950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000285634 SCV000330760 pathogenic not provided 2022-11-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD)
Labcorp Genetics (formerly Invitae), Labcorp RCV000285634 SCV002221005 pathogenic not provided 2023-02-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 280810). This variant has not been reported in the literature in individuals affected with TGM1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gly62*) in the TGM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TGM1 are known to be pathogenic (PMID: 18948357, 19241467).
Genome-Nilou Lab RCV000667655 SCV002764139 pathogenic Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing
Counsyl RCV000667655 SCV000792140 likely pathogenic Autosomal recessive congenital ichthyosis 1 2017-06-16 no assertion criteria provided clinical testing

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