ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.3554G>A (p.Gly1185Glu) (rs766941490)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485717 SCV000572150 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing The G1185E variant in the COL1A2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1185E variant is observed in 5/66736 (0.007%) alleles from individuals of European background in the ExAC dataset, and in 3/62386 (0.005%) alleles from presumably healthy individuals undergoing testing at GeneDx (Lek et al., 2016). The G1185E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, affecting a Glycine residue, but not within the triple-helical region containing Gly-X-Y repeats. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G1185E as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000844988 SCV000986815 not provided COL1A2-Related Disorder no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 03/14/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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