ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.3G>C (p.Met1Ile) (rs879255658)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239708 SCV000298035 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Invitae RCV000239708 SCV001375322 uncertain significance Multiple fibrofolliculomas 2019-07-25 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FLCN mRNA. The next in-frame methionine is located at codon 54. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with clinical features of Birt-Hogg-Dube syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 253226). Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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