ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1217G>C (p.Ser406Thr)

gnomAD frequency: 0.00001  dbSNP: rs2046926469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932601 SCV002136370 uncertain significance Birt-Hogg-Dube syndrome 2021-07-28 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with FLCN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 406 of the FLCN protein (p.Ser406Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine.
Ambry Genetics RCV002359315 SCV002655817 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-24 criteria provided, single submitter clinical testing The p.S406T variant (also known as c.1217G>C), located in coding exon 8 of the FLCN gene, results from a G to C substitution at nucleotide position 1217. The serine at codon 406 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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