ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile)

gnomAD frequency: 0.00355  dbSNP: rs34908107
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000294257 SCV000394015 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001706490 SCV000514294 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Invitae RCV000294257 SCV000642073 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000294257 SCV001160102 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-07-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263004 SCV002542843 likely benign Autoinflammatory syndrome 2022-04-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706490 SCV001927514 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727681 SCV001976090 benign not specified no assertion criteria provided clinical testing

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