ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2134_2142del (p.Ser712_Met714del)

dbSNP: rs778319427
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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 RCV000803237 SCV000943099 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-08-04 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has not been reported in the literature in individuals with DSG2-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.2134_2142delTCCGAGATG, results in the deletion of 3 amino acid(s) of the DSG2 protein (p.Ser712_Met714del), but otherwise preserves the integrity of the reading frame.

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