ClinVar Miner

Submissions for variant NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)

gnomAD frequency: 0.00192  dbSNP: rs150319104
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000721040 SCV000851924 uncertain significance History of neurodevelopmental disorder 2012-12-12 criteria provided, single submitter clinical testing Co-segregation data for this variant is currently unavailable.This variant has not been detected in conjunction with a pathogenic mutation to date.This variant was previously reported in the SNPDatabase as rs150319104 (Database of Single Nucleotide Polymorphisms (dbSNP). Based on data from the NHLBI Exome Sequencing Project (ESP), the A-allele has an overall frequency of approximately 0.05% (1/1993) total male alleles studied and was not observed in the homozygous state out of 3382 females studied. The A-allele was observed in 0.19% (1/521) African American male alleles but was absent out of 1472 European American male alleles studied. Based on data from the 1000 Genomes Project, the A-allele was absent out of 1048 male alleles studied. This amino acid position is not conserved on species alignment.This alteration is predicted to be possibly damaging with a score of 0.746 (sensitivity: 0.76; specificity: 0.86)This alteration is predicted to be tolerated with a score of 0.520 (conservation: 3.62)
Invitae RCV000861992 SCV001002418 benign Dyskeratosis congenita 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816790 SCV002071695 likely benign not specified 2021-06-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000861992 SCV002535825 likely benign Dyskeratosis congenita 2021-12-01 criteria provided, single submitter curation
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573187 SCV001798654 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573187 SCV001970105 likely benign not provided no assertion criteria provided clinical testing

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