ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.302T>C (p.Leu101Pro)

dbSNP: rs1907452711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332507 SCV001524854 uncertain significance Autosomal dominant isolated somatotropin deficiency 2020-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV003229044 SCV003925852 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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