ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2001+3C>G

gnomAD frequency: 0.00001  dbSNP: rs746471051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Klaassen Lab, Charite University Medicine Berlin RCV000853140 SCV000995853 uncertain significance Left ventricular noncompaction cardiomyopathy 2019-07-03 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV001184512 SCV001350494 likely benign Cardiomyopathy 2019-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415971 SCV002719447 uncertain significance Cardiovascular phenotype 2024-11-20 criteria provided, single submitter clinical testing The c.2001+3C>G intronic variant results from a C to G substitution 3 nucleotides after coding exon 13 in the DSG2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002536194 SCV003314035 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2022-02-19 criteria provided, single submitter clinical testing This sequence change falls in intron 13 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. This variant is present in population databases (rs746471051, gnomAD 0.002%). This variant has been observed in individual(s) with DSG2-related conditions (PMID: 31568572). ClinVar contains an entry for this variant (Variation ID: 691818). 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. 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.

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