ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.1787_1788delinsAT (p.Ser596Asn)

dbSNP: rs2091475179
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050842 SCV001214970 uncertain significance Arrhythmogenic right ventricular dysplasia 13 2019-12-22 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 or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with CTNNA3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 596 of the CTNNA3 protein (p.Ser596Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine.

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