ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1222dup (p.Val408fs)

dbSNP: rs1392091785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642404 SCV000764074 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-04-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This sequence change results in a frameshift in the PSTPIP1 gene (p.Val408Glyfs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 9 amino acid(s) of the PSTPIP1 protein and extend the protein by 46 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 534751). 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.
Undiagnosed Diseases Network, NIH RCV000642404 SCV002818555 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2022-08-30 no assertion criteria provided clinical testing

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