ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3319G>A (p.Val1107Ile)

gnomAD frequency: 0.00005  dbSNP: rs764498622
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001784104 SCV002025608 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2020-06-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003728009 SCV004536003 uncertain significance not provided 2024-11-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1107 of the SETD5 protein (p.Val1107Ile). This variant is present in population databases (rs764498622, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SETD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1325517). 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 not expected to disrupt SETD5 protein function with a negative predictive value of 80%. 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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