ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.524G>T (p.Gly175Val)

dbSNP: rs2122623743
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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 RCV001365862 SCV001562147 uncertain significance Alagille syndrome due to a JAG1 point mutation 2021-03-09 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; 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. This sequence change replaces glycine with valine at codon 175 of the JAG1 protein (p.Gly175Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine.
Ambry Genetics RCV002341777 SCV002645402 uncertain significance Cardiovascular phenotype 2022-08-07 criteria provided, single submitter clinical testing The p.G175V variant (also known as c.524G>T), located in coding exon 4 of the JAG1 gene, results from a G to T substitution at nucleotide position 524. The glycine at codon 175 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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