ClinVar Miner

Submissions for variant NM_003504.5(CDC45):c.1416C>T (p.His472=)

gnomAD frequency: 0.00014  dbSNP: rs190155337
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092749 SCV001249395 likely pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing CDC45: PM3:Strong, PP1:Moderate, PM2:Supporting, PP4, PS3:Supporting, BP4, BP7
GeneDx RCV001092749 SCV002504460 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001092749 SCV003490501 uncertain significance not provided 2023-06-25 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 872335). This variant has been observed in individual(s) with Meier-Gorlin syndrome (PMID: 34000999). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs190155337, gnomAD 0.2%). This sequence change affects codon 504 of the CDC45 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDC45 protein.
Ambry Genetics RCV004031990 SCV004920920 likely benign Inborn genetic diseases 2024-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Undiagnosed Diseases Network, NIH RCV003992443 SCV004812043 likely pathogenic Meier-Gorlin syndrome 7 2023-03-01 no assertion criteria provided clinical testing

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