ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.583A>T (p.Ile195Phe)

gnomAD frequency: 0.00008  dbSNP: rs1038499600
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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 RCV001063408 SCV001228251 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-07-07 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 expected to disrupt PSTPIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 857682). 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 0.02%). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 195 of the PSTPIP1 protein (p.Ile195Phe).
Ambry Genetics RCV002555822 SCV003740100 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.583A>T (p.I195F) alteration is located in exon 9 (coding exon 9) of the PSTPIP1 gene. This alteration results from a A to T substitution at nucleotide position 583, causing the isoleucine (I) at amino acid position 195 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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