ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)

dbSNP: rs1270283587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246512 SCV001419870 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2023-06-19 criteria provided, single submitter clinical testing This variant, c.2393_2401del, results in the deletion of 3 amino acid(s) of the PKP2 protein (p.Thr798_Asn800del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 970859). This variant has been observed in individual(s) with clinical features of arrhythmogenic right ventricular cardiomyopathy (PMID: 15489853, 34540771).
Klaassen Lab, Charite University Medicine Berlin RCV001815030 SCV002061915 likely pathogenic Left ventricular noncompaction cardiomyopathy criteria provided, single submitter research

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