ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser)

dbSNP: rs886041418
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000290381 SCV000330053 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000290381 SCV002126313 uncertain significance not provided 2021-04-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of Noonan syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 280158). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 68 of the LZTR1 protein (p.Arg68Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine.
Baylor Genetics RCV003463737 SCV004191287 uncertain significance Schwannomatosis 2 2023-08-23 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509558 SCV000606930 not provided LZTR1-related disorder no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-02-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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