ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.538G>A (p.Val180Met)

gnomAD frequency: 0.00001  dbSNP: rs780050276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001912393 SCV002162722 uncertain significance Hereditary pancreatitis 2024-06-03 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 180 of the CTRC protein (p.Val180Met). This variant is present in population databases (rs780050276, gnomAD 0.005%). This missense change has been observed in individual(s) with acute pancreatitis (PMID: 35171259). ClinVar contains an entry for this variant (Variation ID: 1392770). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CTRC protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001912393 SCV002642818 uncertain significance Hereditary pancreatitis 2023-01-27 criteria provided, single submitter clinical testing The p.V180M variant (also known as c.538G>A), located in coding exon 6 of the CTRC gene, results from a G to A substitution at nucleotide position 538. The valine at codon 180 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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