ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1663+4A>G

gnomAD frequency: 0.00003  dbSNP: rs369849387
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618122 SCV000738045 likely benign Cardiovascular phenotype 2023-05-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001047699 SCV001211677 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2023-10-13 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the DSC2 gene. It does not directly change the encoded amino acid sequence of the DSC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs369849387, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 519457). 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.
Color Diagnostics, LLC DBA Color Health RCV001185004 SCV001351123 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001249442 SCV001423452 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01-06-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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