ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.1357C>G (p.Pro453Ala)

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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 RCV004137642 SCV003610527 uncertain significance Dyskeratosis congenita 2022-03-29 criteria provided, single submitter clinical testing The c.1357C>G (p.P453A) alteration is located in exon 9 (coding exon 9) of the WRAP53 gene. This alteration results from a C to G substitution at nucleotide position 1357, causing the proline (P) at amino acid position 453 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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