ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3410A>G (p.Lys1137Arg)

gnomAD frequency: 0.00001  dbSNP: rs756835554
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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 RCV002654669 SCV003521625 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992547 SCV005598293 uncertain significance Cardiovascular phenotype 2024-12-05 criteria provided, single submitter clinical testing The c.3410A>G (p.K1137R) alteration is located in exon 26 (coding exon 26) of the JAG1 gene. This alteration results from a A to G substitution at nucleotide position 3410, causing the lysine (K) at amino acid position 1137 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004550446 SCV004113053 uncertain significance JAG1-related disorder 2024-02-17 no assertion criteria provided clinical testing The JAG1 c.3410A>G variant is predicted to result in the amino acid substitution p.Lys1137Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. 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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