ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.203G>C (p.Arg68Pro)

gnomAD frequency: 0.00001  dbSNP: rs892275570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002247908 SCV002517216 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101328 SCV003280102 likely benign Alagille syndrome due to a JAG1 point mutation 2022-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045187 SCV003877665 uncertain significance Cardiovascular phenotype 2023-02-27 criteria provided, single submitter clinical testing The c.203G>C (p.R68P) alteration is located in exon 2 (coding exon 2) of the JAG1 gene. This alteration results from a G to C substitution at nucleotide position 203, causing the arginine (R) at amino acid position 68 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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