ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)

gnomAD frequency: 0.00004  dbSNP: rs764089304
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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) RCV000734571 SCV000862723 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001417396 SCV001619596 likely benign Alagille syndrome due to a JAG1 point mutation 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406672 SCV002723384 uncertain significance Cardiovascular phenotype 2021-08-04 criteria provided, single submitter clinical testing The c.1865C>T (p.T622M) alteration is located in exon 14 (coding exon 14) of the JAG1 gene. This alteration results from a C to T substitution at nucleotide position 1865, causing the threonine (T) at amino acid position 622 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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