ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.-1G>C

gnomAD frequency: 0.00004  dbSNP: rs1012160082
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707780 SCV000720990 likely benign not provided 2022-10-17 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Color Diagnostics, LLC DBA Color Health RCV000772685 SCV000905944 uncertain significance Cardiomyopathy 2023-06-16 criteria provided, single submitter clinical testing This variant occurs in the 5' untranslated region of the DSG2 gene, 1 bp upstream of the translational start codon (ATG). Computational prediction tools and conservation analyses suggest that this variant may not impact translation or protein function. To our knowledge, functional assays have not been performed for this variant. This variant has not been reported in individuals affected with DSG2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002420617 SCV002723151 uncertain significance Cardiovascular phenotype 2023-07-26 criteria provided, single submitter clinical testing The c.-1G>C variant is located in the 5' untranslated region (5’ UTR) of the DSG2 gene. This variant results from a G to C substitution 1 nucleotide upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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