ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)

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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 RCV003068206 SCV003452330 benign Alagille syndrome due to a JAG1 point mutation 2023-08-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070323 SCV003628177 uncertain significance Cardiovascular phenotype 2022-06-09 criteria provided, single submitter clinical testing The c.1414C>T (p.R472C) alteration is located in exon 12 (coding exon 12) of the JAG1 gene. This alteration results from a C to T substitution at nucleotide position 1414, causing the arginine (R) at amino acid position 472 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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