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 2020-08-11 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 The p.V151M variant (also known as c.451G>A), located in coding exon 3 of the FLCN gene, results from a G to A substitution at nucleotide position 451. The valine at codon 151 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of p.V151M remains unclear.

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