ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) (rs201944276)

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Total submissions: 8
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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 RCV000172583 SCV000051040 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154802 SCV000204482 uncertain significance not specified 2014-08-08 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Pro276Ser varia nt in PKP2 has not been reported in individuals with cardiomyopathy but was iden tified in 1/1093 chromosomes by the ClinSeq project and in 2/8600 European Ameri can chromosomes by the NHLBI Exome Sequencing Project ( edu/EVS/; dbSNP rs201944276). Proline (Pro) at position 276 is not conserved in mammals and evolutionarily distant species and the change to Serine (Ser) is pre sent in 6 mammals including hamster, bushbaby, dolphin, killer whale, tenrec and tasmanian devil; however, the local alignment of this region is poor. Additiona l computational prediction tools indicate this variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, while the clinical significance of the Pro276Ser variant is uncertain , conservation data suggest that it is more likely to be benign.
GeneDx RCV000154802 SCV000236178 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.
Ambry Genetics RCV000244304 SCV000318036 likely benign Cardiovascular phenotype 2017-06-12 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Invitae RCV001081729 SCV000761617 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852678 SCV000995386 likely benign Cardiomyopathy 2018-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001081729 SCV001269900 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color RCV000852678 SCV001356680 likely benign Cardiomyopathy 2018-11-14 criteria provided, single submitter clinical testing

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