ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.565C>T (p.Arg189Trp)

dbSNP: rs759647212
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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 RCV002033383 SCV002113589 uncertain significance Atrial septal defect 7 2021-10-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. This variant disrupts the p.Arg189 amino acid residue in NKX2-5. Other variant(s) that disrupt this residue have been observed in individuals with NKX2-5-related conditions (PMID: 10587520, 25028484; Invitae), which suggests that this may be a clinically significant amino acid residue. 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. This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 189 of the NKX2-5 protein (p.Arg189Trp).

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