ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)

gnomAD frequency: 0.00036  dbSNP: rs146509445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001148310 SCV001309200 uncertain significance Fanconi anemia complementation group D2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV002070798 SCV002335472 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002070798 SCV002529488 uncertain significance Fanconi anemia 2021-12-28 criteria provided, single submitter curation
GeneDx RCV002464398 SCV002759071 uncertain significance not provided 2022-12-01 criteria provided, single submitter clinical testing Co-observed with a frameshift variant in the MLH1 gene in an individual with colorectal cancer and ovarian germ cell tumor, and reported in an individual with ovarian cancer (de Angelis de Carvalho et al., 2020; Song et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32659967, 32546565)

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