ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn)

dbSNP: rs2140513573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227330 SCV002506175 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-01-26 criteria provided, single submitter clinical testing
Invitae RCV003093895 SCV002957026 uncertain significance not provided 2023-08-14 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1679451). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 93 of the CDAN1 protein (p.Ser93Asn).

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