ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.759T>A (p.Asp253Glu)

gnomAD frequency: 0.00001  dbSNP: rs139885263
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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 RCV001886406 SCV002148198 uncertain significance ANKRD1-related dilated cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 253 of the ANKRD1 protein (p.Asp253Glu). This variant is not present in population databases (gnomAD no frequency). 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: 1380608). 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 RCV003164272 SCV003857221 uncertain significance Cardiovascular phenotype 2023-01-17 criteria provided, single submitter clinical testing The p.D253E variant (also known as c.759T>A), located in coding exon 8 of the ANKRD1 gene, results from a T to A substitution at nucleotide position 759. The aspartic acid at codon 253 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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