ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.101A>G (p.His34Arg) (rs752110396)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181120 SCV000233396 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing The H34R variant in the COL3A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H34R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The H34R variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H34R as a variant of uncertain significance.
GenomeConnect, ClinGen RCV000709845 SCV000840176 not provided Ehlers-Danlos syndrome, type 4 no assertion provided phenotyping only 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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