ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.332A>G (p.His111Arg)

dbSNP: rs2133504109
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001884965 SCV002160398 pathogenic Autoimmune lymphoproliferative syndrome type 1 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 111 of the FAS protein (p.His111Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autoimmune lymphoproliferative syndrome (PMID: 21490157, 22237435). ClinVar contains an entry for this variant (Variation ID: 1395111). 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. Experimental studies have shown that this missense change affects FAS function (PMID: 22237435). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004591621 SCV005078056 likely pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing Published functional studies suggest a damaging effect (PMID: 21490157, 30404775); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21490157, 22237435, 30404775)

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