ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.847_849dup (p.Pro283dup)

dbSNP: rs747608855
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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 RCV001873051 SCV002138590 uncertain significance Atrial septal defect 7 2021-08-04 criteria provided, single submitter clinical testing This variant, c.847_849dup, results in the insertion of 1 amino acid(s) to the NKX2-5 protein (p.Pro283dup), but otherwise preserves the integrity of the reading frame. 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. 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.

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