Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001115016.3(KANSL3):c.2423G>T(p.Gly808Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000025 in 1,602,996 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
KANSL3 (HGNC:25473): (KAT8 regulatory NSL complex subunit 3) Involved in histone H4-K16 acetylation; histone H4-K5 acetylation; and histone H4-K8 acetylation. Located in nucleoplasm. Part of histone acetyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]
Review Status: criteria provided, single submitter
Collection Method: clinical testing
The c.2423G>T (p.G808V) alteration is located in exon 19 (coding exon 18) of the KANSL3 gene. This alteration results from a G to T substitution at nucleotide position 2423, causing the glycine (G) at amino acid position 808 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -