Submissions for variant NM_020928.2(ZSWIM6):c.522CGC[7] (p.Ala182_Ala184del)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002795317	SCV003031469	uncertain significance	not provided	2021-01-08	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 ZSWIM6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant, c.543_551del, results in the deletion of 3 amino acid(s) of the ZSWIM6 protein (p.Ala182_Ala184del), but otherwise preserves the integrity of the reading frame.
Ambry Genetics	RCV002781453	SCV003684357	likely benign	Inborn genetic diseases	2022-09-20	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.
CeGaT Center for Human Genetics Tuebingen	RCV002795317	SCV005041897	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	ZSWIM6: BS1, BS2