ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.516C>T (p.Ile172=)

dbSNP: rs2047176639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002131577 SCV002460142 likely benign Birt-Hogg-Dube syndrome 2024-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003308013 SCV003999481 likely benign Hereditary cancer-predisposing syndrome 2023-04-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999664 SCV005623391 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248494 SCV005896460 benign Birt-Hogg-Dube syndrome 1 2024-10-23 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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