ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1475C>T (p.Ala492Val)

gnomAD frequency: 0.00001  dbSNP: rs200250528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001364173 SCV001560308 likely benign Alagille syndrome due to a JAG1 point mutation 2022-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395817 SCV002701097 uncertain significance Cardiovascular phenotype 2024-04-28 criteria provided, single submitter clinical testing The p.A492V variant (also known as c.1475C>T), located in coding exon 12 of the JAG1 gene, results from a C to T substitution at nucleotide position 1475. The alanine at codon 492 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 RCV004550087 SCV004756166 uncertain significance JAG1-related disorder 2024-01-11 no assertion criteria provided clinical testing The JAG1 c.1475C>T variant is predicted to result in the amino acid substitution p.Ala492Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10629291-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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