ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1489AGCCAC[3] (p.497SH[3])

dbSNP: rs778227051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273984 SCV000391114 uncertain significance Congenital dyserythropoietic anemia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002520953 SCV003255279 uncertain significance not provided 2023-02-11 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. ClinVar contains an entry for this variant (Variation ID: 315948). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. This variant is present in population databases (rs778227051, gnomAD 0.04%). This variant, c.1495_1500dup, results in the insertion of 2 amino acid(s) of the CDAN1 protein (p.Ser499_His500dup), but otherwise preserves the integrity of the reading frame.

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