ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.641T>C (p.Leu214Pro)

dbSNP: rs1590017658
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994534 SCV001148128 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994534 SCV002243673 pathogenic not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 214 of the DEAF1 protein (p.Leu214Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant DEAF1-related conditions (PMID: 30923367). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 806590). 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%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000994534 SCV005327983 pathogenic not provided 2024-02-20 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 30923367, 35032046)

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