ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3312del (p.Thr1105fs)

dbSNP: rs1413344418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001918390 SCV002181686 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-07-26 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the DSG2 gene (p.Thr1105Profs*22). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 14 amino acid(s) of the DSG2 protein and extend the protein by 7 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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