Submissions for variant NM_016203.4(PRKAG2):c.685-7C>A

gnomAD frequency: 0.00001  dbSNP: rs397517278

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038953	SCV000062631	uncertain significance	not specified	2012-01-19	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The 685-7C>A varian t (PRKAG2) has not been reported in the literature, but has been detected in 1 i ndividual with HCM tested by our laboratory (this individual's daughter), who ca rried a second pathogenic variant in the TNNI3 gene. The 685-7C>A variant did no t segregate with disease in 1 affected relative, who carried the pathogenic TNNI 3 variant. The 685-7C>A variant is located in the 3' splice region but computati onal analyses do not predict altered splicing, though the accuracy of these tool s is unknown. Although this variant is likely to be benign when seen in isolatio n, we cannot rule out a modifying role. Additional information is needed to full y assess its clinical significance.
GeneDx	RCV000038953	SCV000526230	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001184218	SCV001350158	likely benign	Cardiomyopathy	2019-05-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001299347	SCV001488432	likely benign	Lethal congenital glycogen storage disease of heart	2024-05-28	criteria provided, single submitter	clinical testing