ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.1028C>T (p.Thr343Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003392002 SCV004131906 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CUX2: BP4
PreventionGenetics, part of Exact Sciences RCV004750893 SCV005346887 uncertain significance CUX2-related disorder 2024-08-22 no assertion criteria provided clinical testing The CUX2 c.1028C>T variant is predicted to result in the amino acid substitution p.Thr343Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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