ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.521C>T (p.Thr174Met)

gnomAD frequency: 0.00005  dbSNP: rs144999773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000658070 SCV000705745 uncertain significance not provided 2017-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000658070 SCV000779841 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing The T174M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T174M variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The T174M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000697734 SCV000826361 likely benign Alagille syndrome due to a JAG1 point mutation 2023-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491201 SCV002775277 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 2022-02-05 criteria provided, single submitter clinical testing

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