ClinVar Miner

Submissions for variant NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu)

gnomAD frequency: 0.00041  dbSNP: rs144038296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202965 SCV000257827 likely benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000202965 SCV000967447 uncertain significance not specified 2018-10-24 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro177Leu var iant in MSRB3 has not been previously reported in individuals with hearing loss but has been identified in 0.1% (30/24030) of African chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Computational p rediction tools and computational analyses do not provide strong support for or against an impact the protein. In summary, while the clinical significance of th e p.Pro177Leu variant is uncertain, its frequency suggests that it is more likel y to be benign. ACMG/AMP Criteria applied: BS1_Supporting.

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