ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1120A>C (p.Asn374His)

gnomAD frequency: 0.00002  dbSNP: rs757828114
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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 RCV001966229 SCV002249332 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-12-03 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 sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs757828114, gnomAD 0.02%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 374 of the PSTPIP1 protein (p.Asn374His).

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