ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.29C>T (p.Ala10Val)

gnomAD frequency: 0.00001  dbSNP: rs775041579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037172 SCV001200572 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-07-17 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 10 of the PSTPIP1 protein (p.Ala10Val). This variant is present in population databases (rs775041579, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 836122).

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