ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) (rs202094467)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172083 SCV000051031 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219286 SCV000272309 uncertain significance not specified 2015-06-25 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.His877Gln var iant in PKP2 has been reported in 1 adult with DCM who also carried a likely pat hogenic splice variant in the DSP gene (Elliott 2010). This variant has also bee n identified in 0.1% (21/16512) of South Asian chromosomes including one homozyg ote by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs202094467). Computational prediction tools and conservation analysis do n ot provide strong support for or against an impact to the protein. In summary, while the clinical significance of the p.His877Gln variant is uncertain, its fre quency suggests that it is more likely to be benign.
Color RCV000771962 SCV000904916 likely benign Cardiomyopathy 2020-04-13 criteria provided, single submitter clinical testing

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