Submissions for variant NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000697177	SCV000825774	uncertain significance	Dyskeratosis congenita, autosomal dominant 6	2023-12-11	criteria provided, single submitter	clinical testing	This sequence change replaces tryptophan, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 24 of the ACD protein (p.Trp24Ser). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 575071). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics	RCV002533477	SCV003644633	uncertain significance	Inborn genetic diseases	2022-08-24	criteria provided, single submitter	clinical testing	The c.71_72delGGinsCC (p.W24S) alteration, located in exon 1 (coding exon 1) of the ACD gene, consists of an in-frame substitution of 2 nucleotides from position 71 to 72, resulting in the insertion of <NA> residues. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.