ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1040C>A (p.Ala347Asp)

dbSNP: rs374682350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373427 SCV001570142 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-12-15 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: 1063577). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 347 of the PSTPIP1 protein (p.Ala347Asp).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264286 SCV002542838 uncertain significance Autoinflammatory syndrome 2019-05-01 criteria provided, single submitter clinical testing

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