ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala)

dbSNP: rs886039011
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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 RCV000246603 SCV000319637 uncertain significance Cardiovascular phenotype 2022-07-15 criteria provided, single submitter clinical testing The p.T859A variant (also known as c.2575A>G), located in coding exon 15 of the DSG2 gene, results from an A to G substitution at nucleotide position 2575. The threonine at codon 859 is replaced by alanine, an amino acid with some similar properties. This amino acid position is poorly conserved in available vertebrate species, and alanine is the reference amino acid in four 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.
Fulgent Genetics, Fulgent Genetics RCV002500950 SCV002791962 uncertain significance Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB 2021-10-05 criteria provided, single submitter clinical testing

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