ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.506T>C (p.Ile169Thr)

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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 RCV002335835 SCV002643605 uncertain significance Hereditary pancreatitis 2022-11-17 criteria provided, single submitter clinical testing The c.506T>C (p.I169T) alteration is located in exon 6 (coding exon 6) of the CTRC gene. This alteration results from a T to C substitution at nucleotide position 506, causing the isoleucine (I) at amino acid position 169 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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