ClinVar Miner

Submissions for variant NM_003504.5(CDC45):c.1021C>T (p.Arg341Trp)

gnomAD frequency: 0.00003  dbSNP: rs540900837
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital RCV000850143 SCV000925755 likely pathogenic Meier-Gorlin syndrome 7 2018-06-08 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002535741 SCV003444406 uncertain significance not provided 2022-04-20 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 373 of the CDC45 protein (p.Arg373Trp). This variant is present in population databases (rs540900837, gnomAD 0.01%). This missense change has been observed in individual(s) with Meier-Gorlin syndrome (PMID: 30986546). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 635406).

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