ClinVar Miner

Submissions for variant NM_000359.2(TGM1):c.967C>T (p.Arg323Trp) (rs771820315)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671220 SCV000796173 uncertain significance Autosomal recessive congenital ichthyosis 1 2017-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000521059 SCV000616891 likely pathogenic not provided 2018-07-08 criteria provided, single submitter clinical testing The R323W variant in the TGM1 gene has been reported previously in combination with another TGM1 variant in at least one individual with congenital ichthyosis (Herman et al., 2009). The R323W variant has also been observed in patients referred for genetic testing at GeneDx either in the apparent homozygous state or with another pathogenic variant on the opposite allele (in trans). The R323W variant is not observed in large population cohorts (Lek et al., 2016). The R323W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R323W as a likely pathogenic variant.

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