ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.871+100C>T

gnomAD frequency: 0.00006  dbSNP: rs587778368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV003390804 SCV004119829 uncertain significance FLCN-related condition 2022-11-11 criteria provided, single submitter clinical testing The FLCN c.971C>T variant is predicted to result in the amino acid substitution p.Ala324Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.18% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17124751-G-A) which is likely too frequent for a disease-causing variant in FLCN. This variant is reported in the ClinVar database, but no interpretation is provided (https://www.ncbi.nlm.nih.gov/clinvar/variation/134428/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000121105 SCV000085273 not provided not specified 2013-09-19 no assertion provided reference population

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