ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.-1_2del (p.Met1del)

dbSNP: rs2143732272
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383452 SCV001582602 pathogenic Fanconi anemia 2020-01-03 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. This variant is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Disruptions of the initiator codon (c.1A>T, c.1A>G, c.2T>A, and c.2T>C) have been reported in individuals affected with Fanconi anemia (PMID: 10090479, 16084127, 24584348, 15643609, 22778927, 23898106). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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