ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.779A>G (p.Asp260Gly)

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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 RCV002409881 SCV002673285 uncertain significance Hereditary pancreatitis 2024-03-15 criteria provided, single submitter clinical testing The c.779A>G (p.D260G) alteration is located in exon 7 (coding exon 7) of the CTRC gene. This alteration results from a A to G substitution at nucleotide position 779, causing the aspartic acid (D) at amino acid position 260 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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