ClinVar Miner

Submissions for variant NM_138289.4(ACTRT1):c.547dup (p.Met183fs)

gnomAD frequency: 0.00191  dbSNP: rs771087307
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laan Lab, Human Genetics Research Group, University of Tartu RCV003991589 SCV004239139 likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation 2023-09-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001572663 SCV005192334 uncertain significance not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572663 SCV001797385 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572663 SCV001973271 uncertain significance not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003966207 SCV004784249 likely benign ACTRT1-related disorder 2022-02-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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