ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys)

gnomAD frequency: 0.00001  dbSNP: rs786205461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171183 SCV000221380 likely pathogenic not provided criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001852062 SCV002120660 uncertain significance ANKRD1-related dilated cardiomyopathy 2024-07-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 264 of the ANKRD1 protein (p.Arg264Cys). This variant is present in population databases (rs786205461, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ANKRD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 191008). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ANKRD1 protein function. 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.
Ambry Genetics RCV004639159 SCV005136552 uncertain significance Cardiovascular phenotype 2024-05-29 criteria provided, single submitter clinical testing The p.R264C variant (also known as c.790C>T), located in coding exon 8 of the ANKRD1 gene, results from a C to T substitution at nucleotide position 790. The arginine at codon 264 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
GeneDx RCV000171183 SCV005401177 uncertain significance not provided 2024-05-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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