Submissions for variant NM_001082486.2(ACD):c.1299G>A (p.Arg433=)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002405331	SCV002708854	likely benign	Inborn genetic diseases	2024-09-01	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003096930	SCV003503503	uncertain significance	Dyskeratosis congenita, autosomal dominant 6	2022-04-07	criteria provided, single submitter	clinical testing	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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs756845439, gnomAD 0.01%). This sequence change affects codon 519 of the ACD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ACD protein. It affects a nucleotide within the consensus splice site.