ClinVar Miner

Submissions for variant NM_000082.3(ERCC8):c.479C>T (p.Ala160Val) (rs121434325)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001787 SCV000800611 uncertain significance Cockayne syndrome type A 2017-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000059647 SCV000521089 likely pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing The A160V variant in the ERCC8 gene has been reported previously in the heterozygous state with a second pathogenic variant in a patient with Cockayne syndrome. However, parental studies were not available to determine if these variants were present on different alleles (in trans) in this patient (Ridley et al., 2005). The A160V 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 A160V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species. At the transcript level, this variant was shown to cause a deletion of exon 5 (Ridley et al., 2005; Nardo et al., 2009). Additional functional studies showed that A160V leads to no expression of ERCC8 protein (Ridley et al., 2005). The A160V variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000001787 SCV000021943 pathogenic Cockayne syndrome type A 2005-01-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059647 SCV000091217 not provided not provided no assertion provided not provided

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