ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala)

dbSNP: rs774627537
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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 RCV001362881 SCV001558929 uncertain significance Atrial septal defect 7 2022-05-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 141 of the NKX2-5 protein (p.Pro141Ala). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with a atrioventricular septal defect (PMID: 29745128). ClinVar contains an entry for this variant (Variation ID: 1054388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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