ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002323033 SCV002609361 uncertain significance Cardiovascular phenotype 2022-09-19 criteria provided, single submitter clinical testing The p.V1070A variant (also known as c.3209T>C), located in coding exon 26 of the JAG1 gene, results from a T to C substitution at nucleotide position 3209. The valine at codon 1070 is replaced by alanine, an amino acid with similar 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 RCV005058278 SCV005699708 benign Alagille syndrome due to a JAG1 point mutation 2024-07-31 criteria provided, single submitter clinical testing

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