ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.1649T>C (p.Met550Thr)

gnomAD frequency: 0.00055  dbSNP: rs201599639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003104020 SCV001472993 uncertain significance Anemia, congenital dyserythropoietic, type 1a 2022-04-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508375 SCV001714496 uncertain significance not provided 2021-01-28 criteria provided, single submitter clinical testing
Invitae RCV001508375 SCV003300849 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 550 of the CDAN1 protein (p.Met550Thr). This variant is present in population databases (rs201599639, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. 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: 993980). 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. 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 RCV004035537 SCV004922329 uncertain significance Inborn genetic diseases 2023-03-13 criteria provided, single submitter clinical testing The c.1649T>C (p.M550T) alteration is located in exon 11 (coding exon 11) of the CDAN1 gene. This alteration results from a T to C substitution at nucleotide position 1649, causing the methionine (M) at amino acid position 550 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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