ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.5872G>A (p.Ala1958Thr)

dbSNP: rs377115716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218378 SCV001390258 uncertain significance Luscan-Lumish syndrome 2023-08-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SETD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 947321). 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. This variant is present in population databases (rs377115716, gnomAD 0.04%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1958 of the SETD2 protein (p.Ala1958Thr).

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