ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1604A>G (p.Asn535Ser)

gnomAD frequency: 0.00003  dbSNP: rs756943490
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003881393 SCV004685339 uncertain significance Luscan-Lumish syndrome 2024-05-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 535 of the SETD2 protein (p.Asn535Ser). This variant is present in population databases (rs756943490, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SETD2-related conditions. 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 not expected to disrupt SETD2 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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