ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del)

dbSNP: rs771530161
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320482 SCV001511271 uncertain significance Alagille syndrome due to a JAG1 point mutation 2022-05-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1020832). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. This variant is present in population databases (rs771530161, gnomAD 0.0009%). This variant, c.3287_3295del, results in the deletion of 3 amino acid(s) of the JAG1 protein (p.Arg1096_Lys1098del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV002486275 SCV002788987 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2022-04-14 criteria provided, single submitter clinical testing

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