ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003073783 SCV003448236 likely benign Alagille syndrome due to a JAG1 point mutation 2023-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003171004 SCV003863897 uncertain significance Cardiovascular phenotype 2022-12-16 criteria provided, single submitter clinical testing The p.D189G variant (also known as c.566A>G), located in coding exon 4 of the JAG1 gene, results from an A to G substitution at nucleotide position 566. The aspartic acid at codon 189 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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