ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1636G>A (p.Ala546Thr) (rs368740836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154801 SCV000204481 likely benign not specified 2018-12-18 criteria provided, single submitter clinical testing The p.Ala546Thr variant in PKP2 is classified as likely benign because it has be en identified in 0.3% (91/35440) of Latino chromosomes, including two homozygote s, by gnomAD (http://gnomad.broadinstitute.org). Alanine (Ala) at position 546 i s not conserved in mammals or evolutionarily distant species and the chinchilla carries a threonine (Thr) at this position, raising the possibility that a chang e at this position may be tolerated. Additional computational tools suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Ambry Genetics RCV000245516 SCV000320189 likely benign Cardiovascular phenotype 2017-03-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
GeneDx RCV000154801 SCV000536008 likely benign not specified 2018-01-16 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.
Invitae RCV000542133 SCV000638869 likely benign not provided 2019-01-12 criteria provided, single submitter clinical testing

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