ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.1631A>T (p.Glu544Val)

gnomAD frequency: 0.00195  dbSNP: rs144843732
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116634 SCV000150598 uncertain significance not provided 2013-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000116634 SCV000564858 uncertain significance not provided 2018-08-17 criteria provided, single submitter clinical testing The E544V variant in the CDT1 gene has been published previously in a single individual with abnormality of growth (Retterer et al., 2016). The E544V variant is observed in 290/102030 (0.28%) alleles from individuals of non-Finnish European background in large population cohorts, and one individual is reported to be homozygous (Lek et al., 2016). The E544V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret E544V as a variant of uncertain significance.
Invitae RCV000116634 SCV001045007 likely benign not provided 2024-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000116634 SCV004138185 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CDT1: BP4

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