ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)

gnomAD frequency: 0.00001  dbSNP: rs918046091
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733299 SCV000861347 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001057425 SCV001221918 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458350 SCV002616033 uncertain significance Cardiovascular phenotype 2022-04-23 criteria provided, single submitter clinical testing The p.A1175V variant (also known as c.3524C>T), located in coding exon 26 of the JAG1 gene, results from a C to T substitution at nucleotide position 3524. The alanine at codon 1175 is replaced by valine, an amino acid with 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.
PreventionGenetics, part of Exact Sciences RCV004547936 SCV004120200 uncertain significance JAG1-related disorder 2023-10-12 criteria provided, single submitter clinical testing The JAG1 c.3524C>T variant is predicted to result in the amino acid substitution p.Ala1175Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10620279-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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