Submissions for variant NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)

dbSNP: rs777131279

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001202226	SCV001373331	uncertain significance	Dyskeratosis congenita, autosomal dominant 6	2023-12-14	criteria provided, single submitter	clinical testing	This variant, c.1075_1086del, results in the deletion of 4 amino acid(s) of the ACD protein (p.Pro359_Ser362del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs777131279, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. ClinVar contains an entry for this variant (Variation ID: 933916). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528715	SCV001473152	uncertain significance	not provided	2019-08-12	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002268446	SCV002551715	uncertain significance	not specified	2024-02-06	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001202226	SCV002792494	uncertain significance	Dyskeratosis congenita, autosomal dominant 6	2022-02-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528715	SCV001740924	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528715	SCV001968117	uncertain significance	not provided		no assertion criteria provided	clinical testing