ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.978G>A (p.Pro326=)

gnomAD frequency: 0.00001  dbSNP: rs920594920
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567874 SCV000673431 likely benign Hereditary cancer-predisposing syndrome 2016-08-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000935514 SCV001081263 likely benign Birt-Hogg-Dube syndrome 2024-12-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005248299 SCV005897965 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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