ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2590A>G (p.Ile864Val)

gnomAD frequency: 0.00004  dbSNP: rs142742183
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000339764 SCV000432897 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408414 SCV000432898 uncertain significance Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001068124 SCV001233214 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021826 SCV003737692 uncertain significance Cardiovascular phenotype 2022-12-21 criteria provided, single submitter clinical testing The c.2590A>G (p.I864V) alteration is located in exon 22 (coding exon 22) of the JAG1 gene. This alteration results from a A to G substitution at nucleotide position 2590, causing the isoleucine (I) at amino acid position 864 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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