ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.4393G>A (p.Val1465Ile) (rs201813523)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000316584 SCV000362731 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375860 SCV000362732 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262594 SCV000362733 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000483087 SCV000574110 uncertain significance not provided 2018-11-05 criteria provided, single submitter clinical testing The V1465I variant in the ERCC6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state in any controls, the V1465I variant is observed in 5/11,574 alleles (0.04%) from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The V1465I variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties, and this substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1465I as a variant of uncertain significance.
Invitae RCV000483087 SCV001012562 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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