ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.579G>A (p.Trp193Ter)

gnomAD frequency: 0.00001  dbSNP: rs199678720
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667060 SCV000791453 likely pathogenic Autosomal recessive congenital ichthyosis 1 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387566 SCV001588234 pathogenic not provided 2023-08-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp193*) 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 present in population databases (rs199678720, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with TGM1-related conditions (PMID: 18948357, 19241467, 20021785). ClinVar contains an entry for this variant (Variation ID: 551893). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000667060 SCV002763917 likely pathogenic Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667060 SCV004203745 pathogenic Autosomal recessive congenital ichthyosis 1 2023-10-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667060 SCV002091233 pathogenic Autosomal recessive congenital ichthyosis 1 2021-05-21 no assertion criteria provided clinical testing

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