ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.828+5C>T

gnomAD frequency: 0.00001  dbSNP: rs373286117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052098 SCV001216291 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-11-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs373286117, gnomAD 0.007%). This sequence change falls in intron 7 of the DSG2 gene. It does not directly change the encoded amino acid sequence of the DSG2 protein. It affects a nucleotide within the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 848357). This variant has not been reported in the literature in individuals affected with DSG2-related conditions.
Color Diagnostics, LLC DBA Color Health RCV001190019 SCV001357430 likely benign Cardiomyopathy 2018-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372959 SCV004096020 uncertain significance Cardiovascular phenotype 2023-06-26 criteria provided, single submitter clinical testing The c.828+5C>T intronic variant results from a C to T substitution 5 nucleotides after coding exon 7 in the DSG2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003425897 SCV004140911 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing DSG2: BP4

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