ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7843G>A (p.Asp2615Asn) (rs145884404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000732252 SCV000621175 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing The D2615N variant in the COL6A3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D2615N variant is observed in 5/16500 (0.03%) alleles from individuals of South Asian background, in the ExAC dataset (Lek et al., 2016). The D2615N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D2615N as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732252 SCV000860177 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing

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