ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) (rs150419186)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760481 SCV000890370 pathogenic not provided 2018-09-07 criteria provided, single submitter clinical testing The R210X variant in the LZTR1 gene has been reported previously as an assumed de novo finding in an individual with schwannomatosis (Paganini et al., 2015). This variant was also reported as a germline finding in different patient with schwannomatosis for whom a somatic variant in NF2 was identified in tumor tissue (Kehrer-Sawatzki et al., 2018). The R210X variant was reported in trans with an intronic LZTR1 variant in four siblings with variable features of Noonan syndrome. In this family, the R210X variant was inherited from a father with a possible schwannoma identified through MRI (Johnston et al., 2018). The R210X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R210X variant is observed in 19/276182 (0.007%) alleles in large population cohorts, with no homozygotes observed (Lek et al., 2016). We interpret R210X as a pathogenic variant.
OMIM RCV000735431 SCV000863566 pathogenic Noonan syndrome 2 2018-12-17 no assertion criteria provided literature only

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