ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465392 SCV002760059 likely pathogenic Intellectual disability, autosomal dominant 24 2022-11-29 criteria provided, single submitter research
GeneDx RCV003235728 SCV003933529 uncertain significance not provided 2022-12-13 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: 31981491)
Ambry Genetics RCV004973430 SCV005563617 likely pathogenic Inborn genetic diseases 2024-11-06 criteria provided, single submitter clinical testing The c.620G>A (p.C207Y) alteration is located in exon 4 (coding exon 4) of the DEAF1 gene. This alteration results from a G to A substitution at nucleotide position 620, causing the cysteine (C) at amino acid position 207 to be replaced by a tyrosine (Y). for autosomal dominant Vulto-van Silfout-de Vries syndrome; however, its clinical significance for autosomal recessive DEAF1-related neurodevelopmental disorder is uncertain. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant was reported in multiple individuals with features consistent with Vulto-van Silfout-de Vries syndrome (Zhou, 2022; Abolhassani, 2024). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic.

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