ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser)

gnomAD frequency: 0.00001  dbSNP: rs761187116
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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 RCV001907267 SCV002118756 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003355575 SCV004070688 uncertain significance Cardiovascular phenotype 2024-05-06 criteria provided, single submitter clinical testing The c.3083T>G (p.I1028S) alteration is located in exon 25 (coding exon 25) of the JAG1 gene. This alteration results from a T to G substitution at nucleotide position 3083, causing the isoleucine (I) at amino acid position 1028 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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