ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.1020C>T (p.Phe340=)

gnomAD frequency: 0.00061  dbSNP: rs202059921
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397836 SCV000377062 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000891491 SCV000527962 likely benign not provided 2020-01-21 criteria provided, single submitter clinical testing
Invitae RCV000891491 SCV001035310 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957597 SCV004769949 likely benign PUS1-related condition 2019-08-13 criteria provided, single submitter 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).
Natera, Inc. RCV001833454 SCV002091062 benign Myopathy, lactic acidosis, and sideroblastic anemia 2019-10-22 no assertion criteria provided clinical testing

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