Submissions for variant NM_001231.5(CASQ1):c.748GAG[1] (p.Glu251del)

dbSNP: rs557262712

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001929855	SCV002130559	uncertain significance	not provided	2023-08-04	criteria provided, single submitter	clinical testing	This variant, c.751_753del, results in the deletion of 1 amino acid(s) of the CASQ1 protein (p.Glu251del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs557262712, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CASQ1-related conditions. 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.
Revvity Omics, Revvity	RCV003146279	SCV003829233	uncertain significance	Myopathy due to calsequestrin and SERCA1 protein overload	2021-02-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003416516	SCV004114048	uncertain significance	CASQ1-related disorder	2023-03-22	criteria provided, single submitter	clinical testing	The CASQ1 c.751_753delGAG variant is predicted to result in an in-frame deletion (p.Glu251del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-160165782-AGAG-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.