ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2552G>A (p.Ser851Asn)

gnomAD frequency: 0.00002  dbSNP: rs1211288472
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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 RCV001367359 SCV001563706 likely benign Alagille syndrome due to a JAG1 point mutation 2023-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037005 SCV004889158 uncertain significance Cardiovascular phenotype 2024-01-02 criteria provided, single submitter clinical testing The c.2552G>A (p.S851N) alteration is located in exon 21 (coding exon 21) of the JAG1 gene. This alteration results from a G to A substitution at nucleotide position 2552, causing the serine (S) at amino acid position 851 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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