ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2008G>A (p.Glu670Lys)

gnomAD frequency: 0.00006  dbSNP: rs374976472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693609 SCV000821484 uncertain significance Luscan-Lumish syndrome 2022-10-13 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 572268). This variant has not been reported in the literature in individuals affected with SETD2-related conditions. This variant is present in population databases (rs374976472, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 670 of the SETD2 protein (p.Glu670Lys).

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