ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)

gnomAD frequency: 0.00001  dbSNP: rs397514522
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032721 SCV000791013 likely pathogenic Autosomal recessive congenital ichthyosis 1 2017-04-24 criteria provided, single submitter clinical testing
Invitae RCV001235335 SCV001408016 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln582*) 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 (rs397514522, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with lamellar ichthyosis (PMID: 11298529). ClinVar contains an entry for this variant (Variation ID: 39523). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000032721 SCV002764150 likely pathogenic Autosomal recessive congenital ichthyosis 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000032721 SCV002781643 likely pathogenic Autosomal recessive congenital ichthyosis 1 2022-04-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000032721 SCV004203796 pathogenic Autosomal recessive congenital ichthyosis 1 2024-03-14 criteria provided, single submitter clinical testing
OMIM RCV000032721 SCV000056485 pathogenic Autosomal recessive congenital ichthyosis 1 2001-04-01 no assertion criteria provided literature only
Natera, Inc. RCV000032721 SCV002091214 pathogenic Autosomal recessive congenital ichthyosis 1 2020-08-06 no assertion criteria provided clinical testing

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