ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr)

gnomAD frequency: 0.00001  dbSNP: rs1454234098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591762 SCV000703271 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Invitae RCV001342639 SCV001536583 likely benign Alagille syndrome due to a JAG1 point mutation 2022-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160014 SCV003883049 uncertain significance Inborn genetic diseases 2023-02-09 criteria provided, single submitter clinical testing The c.2671G>A (p.A891T) alteration is located in exon 22 (coding exon 22) of the JAG1 gene. This alteration results from a G to A substitution at nucleotide position 2671, causing the alanine (A) at amino acid position 891 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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