ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser)

dbSNP: rs867226708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049998 SCV001214084 uncertain significance Atrial septal defect 7 2019-03-07 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, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NKX2-5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 242 of the NKX2-5 protein (p.Gly242Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.
Ambry Genetics RCV003283903 SCV004006446 uncertain significance Cardiovascular phenotype 2023-05-22 criteria provided, single submitter clinical testing The p.G242S variant (also known as c.724G>A), located in coding exon 2 of the NKX2-5 gene, results from a G to A substitution at nucleotide position 724. The glycine at codon 242 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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