ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) (rs141438322)

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Total submissions: 6
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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 RCV000172092 SCV000054798 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038220 SCV000061888 uncertain significance not specified 2015-04-29 criteria provided, single submitter clinical testing The p.Ser155Thr variant in PKP2 has been identified by our laboratory in 1 Cauca sian adult with HCM, who carried a possibly disease-causing variant in another g ene. It has also been identified in 2/66652 European chromosomes and 2/11576 Lat ino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs141438322). Computational prediction tools and evolutionary c onservation analyses suggest that this variant may not impact the protein, thoug h this information is not predictive enough to rule out pathogenicity. In summar y, the clinical significance of the p.Ser155Thr variant is uncertain.
Ambry Genetics RCV000245887 SCV000319582 uncertain significance Cardiovascular phenotype 2015-05-07 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence;In silico models in agreement (benign)
Invitae RCV000537190 SCV000638903 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-09-28 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 155 of the PKP2 protein (p.Ser155Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs141438322, ExAC 0.02%). This variant has not been reported in the literature in individuals with PKP2-related disease. ClinVar contains an entry for this variant (Variation ID: 45079). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000771889 SCV000904651 uncertain significance Cardiomyopathy 2019-11-17 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845440 SCV000987515 uncertain significance Familial dilated cardiomyopathy criteria provided, single submitter clinical testing

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