ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.967A>G (p.Ile323Val) (rs886039096)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251709 SCV000320033 uncertain significance Cardiovascular phenotype 2015-08-06 criteria provided, single submitter clinical testing The p.I323V variant (also known as c.967A>G), located in coding exon 8 of the DSG2 gene, results from an A to G substitution at nucleotide position 967. The isoleucine at codon 323 is replaced by valine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), Exome Aggregation Consortium (ExAC)and 1000 Genomes Project. In the ESP, this variant was not observed in 5969 samples (11938 alleles) with coverage at this position. This amino acid position is well conserved in available vertebrate species;however, valine is the reference amino acid in one species. In addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence for this variantis limited at this time, the clinical significanceremains unclear.

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