ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) (rs1064795935)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624754 SCV000742370 likely pathogenic Inborn genetic diseases 2017-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000479520 SCV000572208 uncertain significance not provided 2016-11-17 criteria provided, single submitter clinical testing The G699D variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G699D variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G699D 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 and is located in exon 29 within the triple helix domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. As an alternate mechanism, this variant may also damage the natural splice acceptor site in intron 28 and cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this variant is unknown.We interpret G699D as a variant of uncertain significance.

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