ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1814C>A (p.Thr605Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002971950 SCV003286751 uncertain significance not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 605 of the SETBP1 protein (p.Thr605Asn). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SETBP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2073524). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SETBP1 protein function. 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.
Molecular Genetics Lab, CHRU Brest RCV003883205 SCV004697785 likely benign Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004958896 SCV005495563 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The c.1814C>A (p.T605N) alteration is located in exon 4 (coding exon 3) of the SETBP1 gene. This alteration results from a C to A substitution at nucleotide position 1814, causing the threonine (T) at amino acid position 605 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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