ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1110T>A (p.Tyr370Ter)

dbSNP: rs762667938
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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 RCV001054212 SCV001218515 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2021-05-18 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with PSTPIP1-related conditions. This variant is present in population databases (rs762667938, ExAC 0.01%). This sequence change results in a premature translational stop signal in the PSTPIP1 gene (p.Tyr370*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 47 amino acids of the PSTPIP1 protein.

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