ClinVar Miner

Submissions for variant NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) (rs121913026)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255624 SCV000322047 pathogenic not provided 2018-12-12 criteria provided, single submitter clinical testing The R722W pathogenic variant in the ERCC2 gene has been reported previously in the homozygous state or in trans with another ERCC2 variant in multiple individuals with trichothiodystrophy (Takayama et al., 1996; Usuda et al., 2011; Pehlivan et al., 2012). It is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The R722W 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 vitro functional studies show that the R722W variant disrupts RARB2 mRNA synthesis by deregulating several transcriptional steps and destabilizes the architecture of the evolutionarily conserved general transcription factor IIH (TFIIH) (Singh et al., 2015). We interpret R722W as a pathogenic variant.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000677676 SCV000803818 pathogenic Cerebrooculofacioskeletal syndrome 2 2014-01-09 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763052 SCV000893533 pathogenic Cerebrooculofacioskeletal syndrome 2; Xeroderma pigmentosum, group D; Trichothiodystrophy 1, photosensitive 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000018283 SCV000038562 pathogenic Trichothiodystrophy 1, photosensitive 1994-06-01 no assertion criteria provided literature only

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