ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.916G>A (p.Gly306Ser)

dbSNP: rs374204996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768060 SCV000898914 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-03-30 criteria provided, single submitter clinical testing PSTPIP1 NM_003978 exon 12 p.Gly306Ser (c.916G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263966 SCV002542904 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000768060 SCV004539170 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-09-23 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: 626001). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 306 of the PSTPIP1 protein (p.Gly306Ser).

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