ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1318C>T (p.Pro440Ser)

dbSNP: rs1187579730
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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 RCV000820652 SCV000961372 uncertain significance Alagille syndrome due to a JAG1 point mutation 2021-08-05 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 440 of the JAG1 protein (p.Pro440Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with JAG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004629351 SCV005127500 uncertain significance Cardiovascular phenotype 2024-05-02 criteria provided, single submitter clinical testing The p.P440S variant (also known as c.1318C>T), located in coding exon 10 of the JAG1 gene, results from a C to T substitution at nucleotide position 1318. The proline at codon 440 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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