Submissions for variant NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg)

dbSNP: rs1324822103

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001186799	SCV001353379	uncertain significance	Cardiomyopathy	2019-05-24	criteria provided, single submitter	clinical testing	This variant results in an in-frame insertion of a single amino acid between codons 743 and 744 of the PKP2 protein. To our knowledge, functional assays have not been performed for this variant. Computational splicing tools suggest that this variant may not impact RNA splicing. 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). 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002559114	SCV002949767	uncertain significance	Arrhythmogenic right ventricular dysplasia 9	2024-06-13	criteria provided, single submitter	clinical testing	This variant, c.2229_2231dup, results in the insertion of 1 amino acid(s) of the PKP2 protein (p.Pro743_Ser744insArg), 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. ClinVar contains an entry for this variant (Variation ID: 925060). 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.