ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1685A>G (p.His562Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004635700 SCV005127524 uncertain significance Cardiovascular phenotype 2024-03-16 criteria provided, single submitter clinical testing The c.1685A>G (p.H562R) alteration is located in exon 13 (coding exon 13) of the JAG1 gene. This alteration results from a A to G substitution at nucleotide position 1685, causing the histidine (H) at amino acid position 562 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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