ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)

dbSNP: rs760723447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617599 SCV000735520 uncertain significance Cardiovascular phenotype 2016-09-02 criteria provided, single submitter clinical testing The p.C114W variant (also known as c.342C>G), located in coding exon 2 of the NKX2-5 gene, results from a C to G substitution at nucleotide position 342. The cysteine at codon 114 is replaced by tryptophan, an amino acid with highly dissimilar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. This position was not covered in the ESP. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002528814 SCV003496530 uncertain significance Atrial septal defect 7 2022-08-02 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 114 of the NKX2-5 protein (p.Cys114Trp). This variant has not been reported in the literature in individuals affected with NKX2-5-related conditions. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 518562). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15").
Revvity Omics, Revvity RCV003129941 SCV003815937 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing

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