ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=)

gnomAD frequency: 0.00891  dbSNP: rs113386299
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127628 SCV000171207 benign not specified 2011-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001081508 SCV000642081 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001081508 SCV000884422 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-09-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001081508 SCV001280240 benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2018-01-13 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262738 SCV002542863 benign Autoinflammatory syndrome 2021-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001081508 SCV002799990 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-10-08 criteria provided, single submitter clinical testing

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