ClinVar Miner

Submissions for variant NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu)

gnomAD frequency: 0.00006  dbSNP: rs145306938
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001364423 SCV001560572 uncertain significance Dilated cardiomyopathy 2B 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 257 of the GATAD1 protein (p.Pro257Leu). This variant is present in population databases (rs145306938, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GATAD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1055710). 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) performed at Invitae indicates that this missense variant is not expected to disrupt GATAD1 protein function with a negative predictive value of 80%. 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 RCV002404863 SCV002669881 uncertain significance Cardiovascular phenotype 2024-08-11 criteria provided, single submitter clinical testing The p.P257L variant (also known as c.770C>T), located in coding exon 5 of the GATAD1 gene, results from a C to T substitution at nucleotide position 770. The proline at codon 257 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV001364423 SCV002783034 uncertain significance Dilated cardiomyopathy 2B 2021-11-01 criteria provided, single submitter clinical testing

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