ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1243T>C (p.Cys415Arg)

dbSNP: rs1567809578
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696473 SCV000825036 uncertain significance Birt-Hogg-Dube syndrome 2022-02-18 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 574519). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 415 of the FLCN protein (p.Cys415Arg).

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