ClinVar Miner

Submissions for variant NC_000015.9:g.(?_77310868)_77315342del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001374079 SCV001570851 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2018-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile70Profs*34) in the PSTPIP1 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PSTPIP1-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PSTPIP1 cause disease. 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.

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