ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1104C>A (p.Tyr368Ter)

dbSNP: rs368373680
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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 RCV001231846 SCV001404380 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-08-16 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 or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 958645). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr368*) in the PSTPIP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the PSTPIP1 protein.

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