ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.1225C>G (p.Arg409Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004821927 SCV005533716 uncertain significance Dyskeratosis congenita 2024-11-14 criteria provided, single submitter clinical testing The c.1225C>G (p.R409G) alteration is located in exon 8 (coding exon 8) of the WRAP53 gene. This alteration results from a C to G substitution at nucleotide position 1225, causing the arginine (R) at amino acid position 409 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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