ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp)

gnomAD frequency: 0.00002  dbSNP: rs751799284
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002023797 SCV002304484 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 934 of the CDAN1 protein (p.Arg934Trp). This variant is present in population databases (rs751799284, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CDAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1516232). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV002548840 SCV003739785 uncertain significance Inborn genetic diseases 2024-05-01 criteria provided, single submitter clinical testing The c.2800C>T (p.R934W) alteration is located in exon 20 (coding exon 20) of the CDAN1 gene. This alteration results from a C to T substitution at nucleotide position 2800, causing the arginine (R) at amino acid position 934 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003146489 SCV003829393 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2021-05-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003408094 SCV004115486 uncertain significance CDAN1-related disorder 2023-04-17 criteria provided, single submitter clinical testing The CDAN1 c.2800C>T variant is predicted to result in the amino acid substitution p.Arg934Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-43020854-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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