ClinVar Miner

Submissions for variant NM_003504.5(CDC45):c.790_791del (p.Ser264fs)

dbSNP: rs763515165
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877471 SCV002146410 pathogenic not provided 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1373744). This variant has not been reported in the literature in individuals affected with CDC45-related conditions. This variant is present in population databases (rs763515165, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser296Argfs*9) in the CDC45 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDC45 are known to be pathogenic (PMID: 27374770, 30986546).

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