ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.418-4_418-3del

dbSNP: rs749862420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000290047 SCV000393995 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000290047 SCV004411520 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the PSTPIP1 gene. It does not directly change the encoded amino acid sequence of the PSTPIP1 protein. It affects a nucleotide within the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 317173). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs749862420, gnomAD 0.007%).

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