ClinVar Miner

Submissions for variant NM_018055.5(NODAL):c.397C>T (p.Gln133Ter)

dbSNP: rs1447874899
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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 RCV000754879 SCV002241019 pathogenic Heterotaxy, visceral, 5, autosomal 2021-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln133*) in the NODAL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NODAL are known to be pathogenic (PMID: 19064609, 19933292). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 545545). This premature translational stop signal has been observed in individual(s) with congenital heart defect(s) (PMID: 29368431). This variant is present in population databases (no rsID available, gnomAD 0.0009%).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000754879 SCV000778476 uncertain significance Heterotaxy, visceral, 5, autosomal 2018-05-28 no assertion criteria provided research

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