ClinVar Miner

Submissions for variant NM_021008.4(DEAF1):c.676C>T (p.Arg226Trp)

dbSNP: rs587777623
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000515525 SCV000590954 likely pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome 2017-05-04 criteria provided, single submitter clinical testing This missense variant has been reported in 2 unrelated families and observed once in our laboratory homozygous in a 2-year-old male with developmental delay, hypotonia, microcephaly, failure to thrive, and a family history of a similar disorder. This individual was included in one of the reports (PMID: 24668509).
Ambry Genetics RCV000622720 SCV000740785 likely pathogenic Inborn genetic diseases 2014-12-12 criteria provided, single submitter clinical testing
Invitae RCV003556179 SCV004294049 pathogenic not provided 2023-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change does not substantially affect DEAF1 function (PMID: 28940898). 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 expected to disrupt DEAF1 protein function. ClinVar contains an entry for this variant (Variation ID: 143989). This missense change has been observed in individuals with autosomal recessive DEAF1-related conditions (PMID: 24668509, 26834045). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs587777623, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 226 of the DEAF1 protein (p.Arg226Trp).
OMIM RCV000515525 SCV000188578 pathogenic Intellectual disability-epilepsy-extrapyramidal syndrome 2014-06-01 no assertion criteria provided literature only

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