ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)

gnomAD frequency: 0.00010  dbSNP: rs772669312
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053508 SCV001217774 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436610 SCV002748046 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.S372F variant (also known as c.1115C>T), located in coding exon 8 of the JAG1 gene, results from a C to T substitution at nucleotide position 1115. The serine at codon 372 is replaced by phenylalanine, an amino acid with highly dissimilar 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.
PreventionGenetics, part of Exact Sciences RCV003413861 SCV004115646 uncertain significance JAG1-related condition 2023-06-12 criteria provided, single submitter clinical testing The JAG1 c.1115C>T variant is predicted to result in the amino acid substitution p.Ser372Phe. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of European (Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10632234-G-A). Although we suspect that this variant may be benign, 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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