ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)

gnomAD frequency: 0.00006  dbSNP: rs145886270
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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 RCV000299065 SCV000399809 uncertain significance Fanconi anemia complementation group A 2018-01-12 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 RCV001242774 SCV001415883 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000299065 SCV001481680 uncertain significance Fanconi anemia complementation group A 2020-11-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000299065 SCV001786854 uncertain significance Fanconi anemia complementation group A 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001731595 SCV001982537 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Natera, Inc. RCV001242774 SCV002092479 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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