ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.890T>C (p.Phe297Ser)

dbSNP: rs1390761338
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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 RCV000622273 SCV000742832 uncertain significance Inborn genetic diseases 2017-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531912 SCV003199208 pathogenic not provided 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 297 of the DEAF1 protein (p.Phe297Ser). This variant is present in population databases (no rsID available, gnomAD no frequency). This missense change has been observed in individual(s) with DEAF1-related conditions (PMID: 35981081). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 521998). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt DEAF1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects DEAF1 function (PMID: 35981081). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV002531912 SCV003840612 pathogenic not provided 2023-03-07 criteria provided, single submitter clinical testing Published functional studies demonstrate F297S results in a dominant-negative effect (McGee et al., 2023); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35981081)

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