Submissions for variant NM_001077365.2(POMT1):c.1256_1257insACA (p.Gln419dup)

dbSNP: rs773942978

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000598708	SCV000710116	uncertain significance	not provided	2017-11-24	criteria provided, single submitter	clinical testing	The c.1322_1323insACA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1322_1323insACA variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The c.1322_1323insACA variant results in the in-frame duplication of a single Glutamine residue, denoted p.Gln441dup. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001868004	SCV002169577	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy	2023-12-18	criteria provided, single submitter	clinical testing	This variant, c.1322_1323insACA, results in the insertion of 1 amino acid(s) of the POMT1 protein (p.Gln441dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773942978, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with POMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 503820). 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.