Submissions for variant NM_021008.4(DEAF1):c.60_86del (p.Val25_Ala33del)

dbSNP: rs769664625

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV002211169	SCV002497089	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	DEAF1: BP3
Invitae	RCV002211169	SCV003011004	uncertain significance	not provided	2021-06-20	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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with DEAF1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.60_86del, results in the deletion of 9 amino acid(s) of the DEAF1 protein (p.Val25_Ala33del), but otherwise preserves the integrity of the reading frame.
PreventionGenetics, part of Exact Sciences	RCV004533973	SCV004749890	likely benign	DEAF1-related disorder	2024-02-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).