ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.360C>A (p.His120Gln) (rs1249605552)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Molecular Biology Lab, Hospital Juan P Garrahan RCV000859982 SCV000920883 uncertain significance Noonan syndrome 10 criteria provided, single submitter clinical testing According to the ACMG guidelines, the variant c.360C>A (p.His120Gln) is classified as variant of uncertain significance. It was classified as deleterious by different in silico algorithms and was not identified in the databases, including ExAC, 1000 Genomes. The variant was also found in the proband's mother with the same phenotype. Dominant and recessive NS causing mutations have been described near this variant (kelch domain); c.356 A>G (p.Y119C) dominant NS (Yamamoto et al 2015) and c.361C>G (p.H121D) recessive NS (Johnston et al 2017).

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