Submissions for variant NM_001005242.3(PKP2):c.139GGC[3] (p.Gly48dup)

dbSNP: rs944330366

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001983933	SCV002280831	uncertain significance	Arrhythmogenic right ventricular dysplasia 9	2024-10-23	criteria provided, single submitter	clinical testing	This variant, c.142_144dup, results in the insertion of 1 amino acid(s) of the PKP2 protein (p.Gly48dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PKP2-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.
Color Diagnostics, LLC DBA Color Health	RCV003533087	SCV004358935	uncertain significance	Cardiomyopathy	2021-11-17	criteria provided, single submitter	clinical testing	This variant causes a duplication of glycine at codon 48 of the PKP2 protein. To our knowledge, functional studies have not been reported 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.