ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1656del (p.Glu553fs)

dbSNP: rs1568795820
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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 RCV000008057 SCV004298036 pathogenic Alagille syndrome due to a JAG1 point mutation 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu553Argfs*11) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 9207788). ClinVar contains an entry for this variant (Variation ID: 7618). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000008057 SCV000028262 pathogenic Alagille syndrome due to a JAG1 point mutation 1997-07-01 no assertion criteria provided literature only

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