ClinVar Miner

Submissions for variant NM_016356.5(DCDC2):c.558G>C (p.Arg186Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813243 SCV005438419 likely pathogenic Nephronophthisis 19 2024-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748221 SCV005347709 uncertain significance DCDC2-related disorder 2024-08-15 no assertion criteria provided clinical testing The DCDC2 c.558G>C variant is predicted to result in the amino acid substitution p.Arg186Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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