ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1062C>T (p.Thr354=)

gnomAD frequency: 0.00007  dbSNP: rs201234509
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721325 SCV000529433 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617755 SCV000736350 likely benign Cardiovascular phenotype 2016-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522311 SCV001731827 benign Alagille syndrome due to a JAG1 point mutation 2025-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001721325 SCV005207369 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004551476 SCV004736748 likely benign JAG1-related disorder 2020-10-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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