ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln)

gnomAD frequency: 0.00004  dbSNP: rs761391585
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Total submissions: 3
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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 RCV003403208 SCV004122023 uncertain significance not specified 2023-10-03 criteria provided, single submitter clinical testing Variant summary: DYNC2H1 c.740G>A (p.Arg247Gln) results in a conservative amino acid change located in the Dynein heavy chain, tail (IPR013594) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 243188 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.740G>A has been reported in the literature in a heterozygous individual affected with Short-rib polydactyly syndrome type 3 without a second variant identified (Zhang_2018). This report does not provide unequivocal conclusions about association of the variant with Short-rib thoracic dysplasia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 29068549). One submitter has cited a clinical-significance assessment for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Dan Cohn Lab, University Of California Los Angeles RCV001291161 SCV000612113 uncertain significance Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291161 SCV001479545 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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