ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)

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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 RCV002394310 SCV002699320 uncertain significance Cardiovascular phenotype 2021-09-14 criteria provided, single submitter clinical testing The p.A480S variant (also known as c.1438G>T), located in coding exon 12 of the JAG1 gene, results from a G to T substitution at nucleotide position 1438. The alanine at codon 480 is replaced by serine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103692 SCV003476539 benign Alagille syndrome due to a JAG1 point mutation 2022-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548290 SCV004120483 uncertain significance JAG1-related disorder 2023-08-01 criteria provided, single submitter clinical testing The JAG1 c.1438G>T variant is predicted to result in the amino acid substitution p.Ala480Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-10629328-C-A). Of note, in multiple species a serine (Ser) is present at the Ala480 residue. 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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