ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3571A>G (p.Lys1191Glu)

gnomAD frequency: 0.00001  dbSNP: rs2043063516
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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 RCV003823844 SCV004624391 uncertain significance Luscan-Lumish syndrome 2023-09-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SETD2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 1191 of the SETD2 protein (p.Lys1191Glu). 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.
Ambry Genetics RCV004953567 SCV005495690 uncertain significance Inborn genetic diseases 2024-12-09 criteria provided, single submitter clinical testing The c.3571A>G (p.K1191E) alteration is located in exon 3 (coding exon 3) of the SETD2 gene. This alteration results from a A to G substitution at nucleotide position 3571, causing the lysine (K) at amino acid position 1191 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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