ClinVar Miner

Submissions for variant NM_006978.3(RNF113A):c.890_891del (p.Tyr297fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Exon Genomics RCV003325934 SCV004031459 likely pathogenic Trichothiodystrophy 5, nonphotosensitive 2023-09-01 criteria provided, single submitter clinical testing The Tyr297Cysfs*3 variant was observed in a child with short stature, dry-skin, sparse hair and global developmental delay. It is a Null variant (frame-shift), predicted to cause NMD. Loss-of-function is a known mechanism of disease (gene has 3 reported pathogenic LOF variants). It is also absent from controls. In summary, the Tyr297Cysfs*3 variant meets ACMG criteria to be classified as pathogenic.

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