ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002320515 SCV002607505 uncertain significance Cardiovascular phenotype 2022-08-03 criteria provided, single submitter clinical testing The p.R1042C variant (also known as c.3124C>T), located in coding exon 25 of the JAG1 gene, results from a C to T substitution at nucleotide position 3124. The arginine at codon 1042 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099218 SCV003484195 benign Alagille syndrome due to a JAG1 point mutation 2024-12-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548273 SCV004710824 uncertain significance JAG1-related disorder 2023-10-20 no assertion criteria provided clinical testing The JAG1 c.3124C>T variant is predicted to result in the amino acid substitution p.Arg1042Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10621506-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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