ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3138C>T (p.His1046=)

gnomAD frequency: 0.00009  dbSNP: rs150884376
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001094409 SCV000399831 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.
Invitae RCV000398509 SCV001002887 likely benign Fanconi anemia 2024-01-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000398509 SCV002534986 likely benign Fanconi anemia 2021-11-24 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003422277 SCV004143598 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003422277 SCV004221997 likely benign not provided 2023-08-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001094409 SCV001458822 likely benign Fanconi anemia complementation group A 2020-06-03 no assertion criteria provided clinical testing

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