Submissions for variant NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)

dbSNP: rs2076654551

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001059227	SCV001223847	uncertain significance	Lethal congenital glycogen storage disease of heart	2022-03-18	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. ClinVar contains an entry for this variant (Variation ID: 854227). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.326_328del, results in the deletion of 1 amino acid(s) of the PRKAG2 protein (p.Ser109del), but otherwise preserves the integrity of the reading frame.
Color Diagnostics, LLC DBA Color Health	RCV001191265	SCV001359014	uncertain significance	Cardiomyopathy	2019-08-27	criteria provided, single submitter	clinical testing	This variant deletes a single amino acid in the PRKAG2 protein. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.