ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.817G>A (p.Gly273Arg)

dbSNP: rs1555306238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519400 SCV000619837 likely pathogenic not provided 2022-09-02 criteria provided, single submitter clinical testing Observed in the heterozygous state in a patient with Harlequin ichthyosis (HI) from the published literature; however, this patient also harbored multiple variants in the ABCA12 gene which is a known cause of HI (Auriti et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function and may also impact gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown; This variant is associated with the following publications: (PMID: 16968736, 32293521)

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