ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.451G>A (p.Val151Met) (rs147164515)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532463 SCV000632872 uncertain significance Multiple fibrofolliculomas 2019-10-26 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 151 of the FLCN protein (p.Val151Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs147164515, ExAC 0.004%). This variant has not been reported in the literature in individuals with FLCN-related disease. ClinVar contains an entry for this variant (Variation ID: 460616). 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 C0"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658774 SCV000780569 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765334 SCV000896597 uncertain significance Multiple fibrofolliculomas; Pneumothorax, primary spontaneous; Potocki-Lupski syndrome; Carcinoma of colon; Renal cell carcinoma, nonpapillary 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022629 SCV001184387 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-01 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence

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