ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)

gnomAD frequency: 0.00007  dbSNP: rs755925068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625425 SCV000745333 likely benign Fanconi anemia complementation group A 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV001036418 SCV001199780 likely benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625425 SCV001273549 uncertain significance Fanconi anemia complementation group A 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.

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