ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) (rs1555927321)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658483 SCV000778850 likely pathogenic not provided 2017-12-06 criteria provided, single submitter clinical testing The M91T variant in the LZTR1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M91T variant is not observed in large population cohorts (Lek et al., 2016). The M91T variant is a non-conservative amino acid substitution, which is likely toimpact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The M91T variant occurs within the kelch 1 domain. We interpret M91T as alikely pathogenic variant. This variant has been confirmed de novo in at least 1 individual tested at GeneDx.
Baylor Genetics RCV001330292 SCV001521933 uncertain significance Noonan syndrome 10 2019-10-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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