ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.307T>A (p.Ser103Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002319874 SCV002608865 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-13 criteria provided, single submitter clinical testing The c.307T>A (p.S103T) alteration is located in exon 5 (coding exon 2) of the FLCN gene. This alteration results from a T to A substitution at nucleotide position 307, causing the serine (S) at amino acid position 103 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099176 SCV003028428 uncertain significance Birt-Hogg-Dube syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 103 of the FLCN protein (p.Ser103Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FLCN-related conditions. 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. 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.

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