ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.134C>T (p.Ala45Val)

dbSNP: rs556510460
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564102 SCV000673477 likely benign Hereditary cancer-predisposing syndrome 2022-09-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001171925 SCV001334829 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV001246934 SCV001420327 uncertain significance Birt-Hogg-Dube syndrome 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 45 of the FLCN protein (p.Ala45Val). This variant is present in population databases (rs556510460, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. ClinVar contains an entry for this variant (Variation ID: 485613). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001171925 SCV002009920 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001171925 SCV002588324 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002483538 SCV002793144 uncertain significance Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-03-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001246934 SCV004195359 uncertain significance Birt-Hogg-Dube syndrome 2023-05-24 criteria provided, single submitter clinical testing

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