ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys)

gnomAD frequency: 0.00002  dbSNP: rs367904759
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001310229 SCV001499841 pathogenic DONSON-related Meier-Gorlin syndrome 2020-02-20 criteria provided, single submitter clinical testing
Bicknell laboratory, University of Otago RCV001527360 SCV001738340 pathogenic Meier-Gorlin syndrome criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003718402 SCV004517045 uncertain significance not provided 2023-09-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 270 of the DONSON protein (p.Tyr270Cys). This variant is present in population databases (rs367904759, gnomAD 0.006%). This missense change has been observed in individual(s) with Meier-Gorlin syndrome (PMID: 31784481). ClinVar contains an entry for this variant (Variation ID: 1012223). 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 DONSON protein function. Experimental studies have shown that this missense change affects DONSON function (PMID: 31784481). 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.

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