ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)

gnomAD frequency: 0.00017  dbSNP: rs147176389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537860 SCV000626182 benign Fanconi anemia 2025-01-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000537860 SCV002534981 likely benign Fanconi anemia 2021-06-23 criteria provided, single submitter curation
Revvity Omics, Revvity RCV003144133 SCV003833900 uncertain significance Fanconi anemia complementation group A 2022-03-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477509 SCV004221996 uncertain significance not provided 2024-10-21 criteria provided, single submitter clinical testing The FANCA c.308C>T (p.Ser103Leu) variant has been reported in the published literature in a family identified as high risk for breast and/or ovarian cancer (PMID: 27153395 (2016)). The frequency of this variant in the general population, 0.00055 (11/19934 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
ITMI RCV000120950 SCV000085118 not provided not specified 2013-09-19 no assertion provided reference population

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