ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.796C>T (p.His266Tyr)

dbSNP: rs1320353083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002904096 SCV003254814 uncertain significance Luscan-Lumish syndrome 2022-09-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 266 of the SETD2 protein (p.His266Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SETD2-related conditions (Invitae). 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. 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.
Baylor Genetics RCV003333227 SCV004041079 uncertain significance Intellectual developmental disorder, autosomal dominant 70 2023-06-20 criteria provided, single submitter clinical testing

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