ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.9071G>C (p.Ser3024Thr)

dbSNP: rs587778501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854652 SCV002209885 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 134780). 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 KMT2C protein function. This variant has not been reported in the literature in individuals affected with KMT2C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3024 of the KMT2C protein (p.Ser3024Thr).
ITMI RCV000121493 SCV000085687 not provided not specified 2013-09-19 no assertion provided reference population

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