ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1929G>A (p.Val643=)

gnomAD frequency: 0.00458  dbSNP: rs115446132
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152126 SCV000200817 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Val643Val in Exon 02 of TPRN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.1% (42/3736) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs115446132)."
GeneDx RCV000840175 SCV000982095 benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000840175 SCV001103579 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000840175 SCV005318060 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003952728 SCV004769904 benign TPRN-related disorder 2019-07-30 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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