ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1A>G (p.Met1Val)

dbSNP: rs772751654
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500370 SCV000594663 pathogenic Fanconi anemia complementation group A 2016-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000500370 SCV000893423 pathogenic Fanconi anemia complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001383377 SCV001582502 pathogenic Fanconi anemia 2023-11-01 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FANCA mRNA. The next in-frame methionine is located at codon 116. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of the initiator codon has been observed in individuals with Fanconi anemia (PMID: 10090479, 15643609, 16084127, 22778927, 23898106, 24584348). ClinVar contains an entry for this variant (Variation ID: 435134). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV000500370 SCV002022321 pathogenic Fanconi anemia complementation group A 2021-06-11 criteria provided, single submitter clinical testing
Counsyl RCV000500370 SCV000793422 likely pathogenic Fanconi anemia complementation group A 2017-08-24 no assertion criteria provided clinical testing
Leiden Open Variation Database RCV000500370 SCV001425887 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, Sue Richards.
Natera, Inc. RCV001383377 SCV002093173 pathogenic Fanconi anemia 2021-04-28 no assertion criteria provided clinical testing

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