ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.639+2T>A

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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 RCV003213806 SCV003912854 uncertain significance Hereditary pancreatitis 2022-11-20 criteria provided, single submitter clinical testing The c.639+2T>A intronic variant results from a T to A substitution two nucleotides after coding exon 6 in the CTRC gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay; however, direct evidence is unavailable. The exact functional effect of the altered amino acid sequence is unknown. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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