ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.15G>A (p.Leu5=)

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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 RCV002398665 SCV002708639 uncertain significance Hereditary pancreatitis 2021-10-11 criteria provided, single submitter clinical testing The c.15G>A variant (also known as p.L5L) is located in coding exon 1 of the CPA1 gene. This variant results from a G to A substitution at nucleotide position 15. This nucleotide substitution does not change the leucine at codon 5. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005097626 SCV005819941 likely benign not provided 2024-02-12 criteria provided, single submitter clinical testing

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