ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.806T>A (p.Ile269Asn)

dbSNP: rs770215969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300535 SCV001489679 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2020-02-21 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals 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 ExAC database. This sequence change replaces isoleucine with asparagine at codon 269 of the PSTPIP1 protein (p.Ile269Asn). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and asparagine.

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