ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.730C>G (p.Pro244Ala) (rs756376477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000244784 SCV000319098 uncertain significance Cardiovascular phenotype 2013-09-19 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000223702 SCV000280418 uncertain significance not specified 2011-08-01 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. PKP2 p.Pro244Ala This variant is novel. This variant results in proline at codon 244 being replaced by alanine, an amino acid with some similar properties. In silico analysis with PolyPhen-2 predicts the variant to be possibly damaging. Mutation taster predicts this variant to be a polymorphism. The proline at codon 244 is not well conserved across species, nor are neighboring amino acids, although Ambry reports that the proline is conserved on sequence alignment (no details given). No other variants have been reported in association with disease at this codon nor at nearby codons. In total the variant has not been seen in ~6,500 individuals from publicly available population datasets. There is no variation at codon 244 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls on ~6,500 Caucasian and African American individuals (as of 9/20/13). Note that this dataset does not match the patient's ancestry (Mexico/N. American). There is also no variation at this codon listed in dbSNP or 1000 genomes (as of 9/20/13).

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