ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)

gnomAD frequency: 0.00005  dbSNP: rs771511132
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Total submissions: 5
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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 RCV001291052 SCV005184481 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-05-31 criteria provided, single submitter clinical testing Variant summary: DYNC2H1 c.625T>A (p.Phe209Ile) results in a non-conservative amino acid change located in the dynein heavy chain, tail domain (IPR013594) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.3e-05 in 223852 control chromosomes (gnomAD). c.625T>A has been reported in the literature in individuals affected with clinical features of short-rib thoracic dysplasia (Zhang_2018). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 19361615, 29068549). ClinVar contains an entry for this variant (Variation ID: 446586). Based on the evidence outlined above, the variant was classified as likely pathogenic.
Dan Cohn Lab, University Of California Los Angeles RCV000516133 SCV000611979 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
Dan Cohn Lab, University Of California Los Angeles RCV001291052 SCV000611989 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291052 SCV001479410 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516133 SCV001479568 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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