ClinVar Miner

Submissions for variant NM_003504.5(CDC45):c.318C>T (p.Val106=)

gnomAD frequency: 0.00001  dbSNP: rs745800041
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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 RCV002518542 SCV003444338 uncertain significance not provided 2022-05-31 criteria provided, single submitter clinical testing This sequence change affects codon 106 of the CDC45 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CDC45 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs745800041, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of CDC45-related conditions (PMID: 27374770). ClinVar contains an entry for this variant (Variation ID: 253098). Studies have shown that this variant results in skipping of exon 4, but is expected to preserve the integrity of the reading-frame (PMID: 27374770). 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.
OMIM RCV000239576 SCV000297896 pathogenic Meier-Gorlin syndrome 7 2016-10-20 no assertion criteria provided literature only

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