ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs142127319
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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 RCV002346217 SCV001179126 likely benign Hereditary pancreatitis 2019-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV002549469 SCV003489349 uncertain significance not provided 2023-03-03 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 822535). This variant has not been reported in the literature in individuals affected with CPA1-related conditions. This variant is present in population databases (rs142127319, gnomAD 0.007%). This sequence change affects the initiator methionine of the CPA1 mRNA. The next in-frame methionine is located at codon 89.

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