ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.622G>A (p.Ala208Thr)

gnomAD frequency: 0.02091  dbSNP: rs34474469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002354932 SCV001187137 benign Hereditary pancreatitis 2018-09-18 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001517260 SCV001725732 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001517260 SCV002005960 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517260 SCV005226747 likely benign not provided criteria provided, single submitter not provided

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