ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.488C>T (p.Ala163Val)

gnomAD frequency: 0.00001  dbSNP: rs774530073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436536 SCV000514292 likely benign not specified 2016-10-19 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 RCV001851035 SCV002289012 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-09-12 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PSTPIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 378437). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs774530073, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 163 of the PSTPIP1 protein (p.Ala163Val).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263678 SCV002542877 likely benign Autoinflammatory syndrome 2020-12-08 criteria provided, single submitter clinical testing

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