ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.241A>G (p.Met81Val)

dbSNP: rs745521431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803233 SCV000943095 uncertain significance Birt-Hogg-Dube syndrome 2022-11-15 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLCN protein function. ClinVar contains an entry for this variant (Variation ID: 648489). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is present in population databases (rs745521431, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 81 of the FLCN protein (p.Met81Val).
Ambry Genetics RCV002453774 SCV002737376 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-22 criteria provided, single submitter clinical testing The p.M81V variant (also known as c.241A>G), located in coding exon 1 of the FLCN gene, results from an A to G substitution at nucleotide position 241. The methionine at codon 81 is replaced by valine, 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 this alteration remains unclear.
Baylor Genetics RCV000803233 SCV004195331 uncertain significance Birt-Hogg-Dube syndrome 2023-08-14 criteria provided, single submitter clinical testing

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