ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.548_556del (p.Lys183_Phe186delinsIle)

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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 RCV003014696 SCV003317864 uncertain significance Atrial septal defect 7 2022-02-21 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 affected with NKX2-5-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.548_556del, is a complex sequence change that results in the deletion of 4 and insertion of 1 amino acid(s) in the NKX2-5 protein (p.Lys183_Phe186delinsIle).

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