ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1105G>A (p.Asp369Asn)

gnomAD frequency: 0.00024  dbSNP: rs372261106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001322447 SCV001513319 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-06-17 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: 1022527). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs372261106, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 369 of the PSTPIP1 protein (p.Asp369Asn).
GeneDx RCV001751622 SCV001994916 uncertain significance not provided 2019-08-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003355390 SCV004069121 uncertain significance Inborn genetic diseases 2023-06-27 criteria provided, single submitter clinical testing The c.1105G>A (p.D369N) alteration is located in exon 14 (coding exon 14) of the PSTPIP1 gene. This alteration results from a G to A substitution at nucleotide position 1105, causing the aspartic acid (D) at amino acid position 369 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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