ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2752A>G (p.Ile918Val)

dbSNP: rs773431867
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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 RCV001308696 SCV001498159 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294247 SCV003999983 uncertain significance Cardiovascular phenotype 2023-03-25 criteria provided, single submitter clinical testing The p.I918V variant (also known as c.2752A>G), located in coding exon 23 of the JAG1 gene, results from an A to G substitution at nucleotide position 2752. The isoleucine at codon 918 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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