ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.1A>G (p.Met1Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002417109 SCV002724201 pathogenic Hereditary pancreatitis 2018-04-30 criteria provided, single submitter clinical testing The p.M1? pathogenic mutation (also known as c.1A>G), located in coding exon 1 of the CTRC gene, results from an A to G substitution at nucleotide position 1. This alters the methionine residue at the initiation codon. Since sequence variations that modify the initiation codon (ATG) are expected to result in either loss of translation initiation, N-terminal truncation, or cause a shift in the mRNA reading frame, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV002417109 SCV003789687 uncertain significance Hereditary pancreatitis 2023-11-24 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CTRC mRNA. The next in-frame methionine is located at codon 200. This variant is present in population databases (rs544668774, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CTRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 1784172). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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