ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.6115C>T (p.Arg2039Cys)

gnomAD frequency: 0.00003  dbSNP: rs779111999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507453 SCV000603402 uncertain significance not specified 2016-09-25 criteria provided, single submitter clinical testing
3billion RCV002283486 SCV002572567 uncertain significance Asphyxiating thoracic dystrophy 3 2022-09-01 criteria provided, single submitter clinical testing This missense variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.001%). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93; 3Cnet: 0.97). A different missense change at the same codon (p.Arg2039His) has been reported to be associated with DYNC2H1 -related disorder (ClinVar ID: VCV000446568/ PMID: 29068549). However, as the evidence of pathogenicity is insufficient at this time, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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