ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1027G>A (p.Gly343Ser)

gnomAD frequency: 0.00004  dbSNP: rs370404621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694720 SCV000823177 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-11-28 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: 573136). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs370404621, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 343 of the PSTPIP1 protein (p.Gly343Ser).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263937 SCV002542837 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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