ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.14G>A (p.Gly5Asp) (rs774778142)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183753 SCV000236234 uncertain significance not provided 2017-01-19 criteria provided, single submitter clinical testing p.Gly5Asp (GGC>GAC): c.14 G>A in exon 1 of the PKP2 gene (NM_004572.3). The G5D variant in the PKP2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Although the G5D variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure, the G5 residue is not conserved across species. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. The G5D variant was not observed in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. However, no mutations in nearby residues have been reported in association with ARVC, suggesting this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if G5D is a disease-causing mutation or a rare benign variant. The variant is found in ARVC panel(s).
Ambry Genetics RCV000250097 SCV000319841 uncertain significance Cardiovascular phenotype 2015-07-17 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Insufficient or conflicting evidence
Color RCV001180049 SCV001344898 uncertain significance Cardiomyopathy 2020-03-24 criteria provided, single submitter clinical testing

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