ClinVar Miner

Submissions for variant NM_001383.6(DPH1):c.786_788del (p.Tyr263del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003404990 SCV004122802 uncertain significance not specified 2023-10-12 criteria provided, single submitter clinical testing Variant summary: DPH1 c.786_788delCTA (p.Tyr263del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant was absent in 249464 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.786_788delCTA in individuals affected with Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Baylor Genetics RCV004565059 SCV005049690 uncertain significance Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 2024-01-24 criteria provided, single submitter clinical testing

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