ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.868C>T (p.Arg290Trp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002633789 SCV003519632 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-11-08 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 290 of the PSTPIP1 protein (p.Arg290Trp).
Ambry Genetics RCV003274307 SCV003983068 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.868C>T (p.R290W) alteration is located in exon 12 (coding exon 12) of the PSTPIP1 gene. This alteration results from a C to T substitution at nucleotide position 868, causing the arginine (R) at amino acid position 290 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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