ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1159C>G (p.His387Asp) (rs886039173)

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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 RCV000249924 SCV000320465 uncertain significance Cardiovascular phenotype 2015-11-20 criteria provided, single submitter clinical testing The p.H387D variant (also known as c.1159C>G), located in coding exon 9 of the DSG2 gene, results from a C to G substitution at nucleotide position 1159. The histidine at codon 387 is replaced by aspartic acid, an amino acid with 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), and 1000 Genomes Project. In the ESP, this variant was not observed in 5985 samples (11970 alleles) with coverage at this position. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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