ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.900G>A (p.Thr300=) (rs140235564)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586966 SCV000698480 uncertain significance not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The PKP2 c.900G>A (p.Thr300Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect binding of ESE site(s).These predictions have yet to be confirmed by functional studies. This variant was found in 2/121098 control chromosomes from ExAC at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic PKP2 variant (0.0004301). The variant of interest has not, to our knowledge, been reported as a germline variant in patients with phenotypes linked to PKP2 gene via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000640039 SCV000761627 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-12-07 criteria provided, single submitter clinical testing

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