ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.797A>C (p.Asp266Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV001250422 SCV001424583 likely pathogenic Cockayne syndrome type A criteria provided, single submitter clinical testing Using trio-exome sequencing and analysis of the genes with the ten highest PEDIA values (PMID: 31164752), a probably pathogenic homozygous missense variant was detected in exon 9 of the ERCCB gene. The name of the variant is: NM_000082: c.797A>C;p.(Asp266Ala) . Both parents carry the variant in heterozygous form. In the population-based database gnomAD this variant is listed once in heterozygous form {allele frequency 0.00000398), in the population-based databases ExAC, 1000Genomes and the Exome Variant Server it is not listed. In the phenotype-related database HGMD the above variant is once listed as pathogenic (PMID : 30111349); in ClinVar and LOVD the variant is not found. In addition, another exchange of the affected amino acid (p.Asp266Gly) has already been published as pathogenic (PMID: 19894250 , 16865293). The mutation prediction programs MutationTaster, SIFT and PolyPhen-2 classify the variant as pathogenic, the CADD score is 27.3. One of the most highly conserved amino acids of the ERCC8 protein, located in a WD protein domain, is affected. The ACMG classification for this variant is: probably pathogenic (Class 4: PM1, PM2, PMS, PP3)

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