ClinVar Miner

Submissions for variant NM_003978.5(PSTPIP1):c.1068C>G (p.Asn356Lys)

gnomAD frequency: 0.00001  dbSNP: rs781251437
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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 RCV000695597 SCV000824107 uncertain significance Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 2023-05-28 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. ClinVar contains an entry for this variant (Variation ID: 573827). This variant has not been reported in the literature in individuals affected with PSTPIP1-related conditions. This variant is present in population databases (rs781251437, gnomAD 0.0009%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 356 of the PSTPIP1 protein (p.Asn356Lys).

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