ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn)

dbSNP: rs750102792
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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 RCV001903469 SCV002171571 benign Alagille syndrome due to a JAG1 point mutation 2022-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042644 SCV003895000 uncertain significance Cardiovascular phenotype 2023-01-20 criteria provided, single submitter clinical testing The c.2632G>A (p.D878N) alteration is located in exon 22 (coding exon 22) of the JAG1 gene. This alteration results from a G to A substitution at nucleotide position 2632, causing the aspartic acid (D) at amino acid position 878 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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