ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.839C>T (p.Ala280Val)

gnomAD frequency: 0.00009  dbSNP: rs139351566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000228502 SCV000291953 uncertain significance not provided 2021-02-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001854836 SCV002207881 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-02-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 280 of the PSTPIP1 protein (p.Ala280Val). This variant is present in population databases (rs139351566, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 242304). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. 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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