ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.58C>T (p.Pro20Ser)

gnomAD frequency: 0.00001  dbSNP: rs757630885
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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 RCV001035355 SCV001198680 uncertain significance Hereditary pancreatitis 2019-12-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CTRC-related conditions. This variant is present in population databases (rs757630885, ExAC 0.002%). This sequence change replaces proline with serine at codon 20 of the CTRC protein (p.Pro20Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
Ambry Genetics RCV001035355 SCV003912846 uncertain significance Hereditary pancreatitis 2022-11-10 criteria provided, single submitter clinical testing The p.P20S variant (also known as c.58C>T), located in coding exon 2 of the CTRC gene, results from a C to T substitution at nucleotide position 58. The proline at codon 20 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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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