ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter)

dbSNP: rs1057517836
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414244 SCV000490845 pathogenic not provided 2024-07-26 criteria provided, single submitter clinical testing 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 38374194, 31168818, 27061915, 28236338, 29444371, 30578701, 34851365)
Uitto Lab, Thomas Jefferson University RCV000782370 SCV000920891 pathogenic Autosomal recessive congenital ichthyosis 1 2018-06-08 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001836809 SCV000927083 pathogenic Abnormality of the skin 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000414244 SCV002246711 pathogenic not provided 2023-04-06 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 disrupt the consensus splice site. This sequence change creates a premature translational stop signal (p.Tyr136*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital ichthyosis (PMID: 31168818). ClinVar contains an entry for this variant (Variation ID: 372530).
Genome-Nilou Lab RCV000782370 SCV002764017 pathogenic Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000782370 SCV002779971 pathogenic Autosomal recessive congenital ichthyosis 1 2022-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000782370 SCV004203752 pathogenic Autosomal recessive congenital ichthyosis 1 2023-10-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000782370 SCV002091237 pathogenic Autosomal recessive congenital ichthyosis 1 2021-03-12 no assertion criteria provided clinical testing

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