ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.334+19C>T

gnomAD frequency: 0.00003  dbSNP: rs755215586
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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 RCV001923424 SCV002188037 uncertain significance Atrial septal defect 7 2021-12-13 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. This variant is present in population databases (rs755215586, gnomAD 0.02%). This sequence change falls in intron 1 of the NKX2-5 gene. It does not directly change the encoded amino acid sequence of the NKX2-5 protein.

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