ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1943-256C>T (rs761685529)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000735432 SCV000746562 uncertain significance Noonan syndrome 2 2017-05-01 criteria provided, single submitter clinical testing This family has been reported in PMID:29469822.
GeneDx RCV000681140 SCV000808598 pathogenic not provided 2018-03-20 criteria provided, single submitter clinical testing The c.1943-256C>T variant in the LZTR1 gene has been reported previously in association with autosomal recessive Noonan syndrome, when present in the homozygous state or when in trans with another disease-causing variant (Johnston et al., 2018). RT-PCR data from lymphoblasts of affected individuals showed the c.1943-256C>T splice variant retained a 117-base pair alternate exon that lies within intron 16 (Johnston et al., 2018). The c.1943-256C>T variant is observed in 11/173260 (0.006%) alleles in large population cohorts (Lek et al., 2016). We interpret c.1943-256C>T as a pathogenic variant.
OMIM RCV000735432 SCV000863567 pathogenic Noonan syndrome 2 2018-12-17 no assertion criteria provided literature only

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