ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp) (rs377437961)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000303879 SCV000394007 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.
GeneDx RCV000412772 SCV000490748 uncertain significance not specified 2016-08-05 criteria provided, single submitter clinical testing To our knowledge, the N286D missense substitution has neither been published as a pathogenic variant, nor as a benign polymorphism. N286D represents a non-conservative amino acid substitution, as a neutral Asparagine residue is replaced by a negatively charged Aspartic Acid residue. In addition, this substitution occurs at a position in the PSTPIP1 protein that is highly conserved among species and is part of the coiled-coil domain. However, all currently known pathogenic variants in the PSTPIP1 gene have been identified in exons 10 and 11 and the pathogenicity of missense changes outside of these exons is unclear.
Invitae RCV000303879 SCV000764084 likely benign Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-03-17 criteria provided, single submitter clinical testing

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