ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2687G>T (p.Trp896Leu)

gnomAD frequency: 0.00001  dbSNP: rs1227203387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001925525 SCV002180537 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-22 criteria provided, single submitter clinical testing
GeneDx RCV004762243 SCV005370473 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV005370033 SCV006023868 uncertain significance Cardiovascular phenotype 2025-01-01 criteria provided, single submitter clinical testing The c.2687G>T (p.W896L) alteration is located in exon 23 (coding exon 23) of the JAG1 gene. This alteration results from a G to T substitution at nucleotide position 2687, causing the tryptophan (W) at amino acid position 896 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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